Common Neurological Abnormalities Research Articles

Clinical features of different stage subacute combined degeneration of the spinal cord.

Subacute combined degeneration (SCD), caused by vitamin B12 disorders, leads to severe degeneration of the spinal cord. Thus, it is significant to make timely diagnosis and treatment options of SCD. The objectives were to summarize clinical features of different sate SCD. Clinical data of 42 SCD patients of spinal cord were retrospectively analyzed, which were classified into early stage, middle stage and late stage SCD. Among the patients, 9 were classified into early stage, 22 into middle stage, and 11 into late stage SCD. Total cholesterol and hemoglobin levels were relatively higher in late stage SCD. In contrast, mean corpusular volume (MCV) level was higher in early stage SCD. There were typical abnormalities only in 8 patients on magnetic resonance imaging (MRI), and a dynamia was a common neurological abnormality in all patients. Importantly, the differences in abnormal findings in anti-nuclear antibodies (ANA) testing, visual acuity and fundus testing were statistically significant in different stage SCD (P < .05). There were correlation between most variances with SCD stage. Strikingly, there existed close relationship between enhanced levels of blood glucose (r = −0.289, P = .066), glycated hemoglobin (GHB) (r = −0.288, P = .068) and homocysteine (r = −0.563, P = .000), abnormal visual findings (r = 0.309, P = .049) and megaloblastic anemia (r = −0.295, P = .061) with different SCD stage, among which abnormal visual findings were closely associated with middle stage SCD. Moreover, levels of total cholesterol, blood glucose, homocysteine and abnormal finding of visual acuity were significant in diagnosis and clinical staging of SCD (P < .05). Although MRI scanning and serum vitamin B12 level were widely used for SCD diagnosis, neurological examination and homocysteine level may be more potentially valuable indexes for SCD diagnosis and staging.

Awareness And Knowledge Of The Preventive Role Of Folic Acid Among Mothers Of Patients With Neural Tube Defect

Background: Neural Tube Defect (NTD) is a common congenital neurological abnormality of childhood, and the causes are poorly understood. However, the condition has been strongly linked with genetic, environmental and essential nutritional factors. Objective: To study the awareness and knowledge of folic acid preventive role among mothers of children with NTD in Federal Medical Centre, Yola, Adamawa State, Nigeria. Methodology: Data on sociodemographic factors, awareness and knowledge about the use of Folic Acid (FA) among the mothers of children with NTD were collected and analysed using simple descriptive statistics. Results: Thirty-two (32) mothers of patients with NTD participated in the study over 24 months. The maternal ages ranged between 15 to 54 years, with a mean age of 28 ± 6 years. Twenty-seven (84.4%) were aware of FA and had used it during pregnancy, while 5 (15.6%) were aware but did not use it. The awareness came from the antenatal clinics (100%), where FA is routinely prescribed. However, despite awareness of its health benefits, the majority, 26(96.3%), commenced it after conception. Only one (3.7%) used it before conception. Twenty-six (96.3%) lacked knowledge regarding its preventive role against NTD and the timing of its usage. After counselling sessions, they all (100%) indicated their willingness to take preconception FA and educate their family and friends on FA use and its timing for prevention of NTDs. Conclusion: The mothers are aware of FA but lack the knowledge that it can prevent NTD and the appropriate timing of its use. There is need to raise awareness on the role of FA and the correct time to commence it for prevention of NTD in our environment.

Clinical profile of meningioma: an experience from South India

Background: Meningiomas are one of the most common primary intracranial tumours. The incidence, varieties of tumour, site, imaging findings, resectability, outcome and prognosis vary from tumour to tumour. The understanding of these characteristics is essential in the management of meningiomas.Methods: An observational study was carried out among 50 patients with imaging proven meningioma and involved recording of age, gender, clinical history, physical examination, imaging findings, intraoperative characteristics, anatomical and pathological diagnosis. The parameters evaluated in the study were gender distribution, age distribution, presenting symptoms, neurological deficits, mri findings, volume of tumour, intraoperative findings, grade of excision, anatomical, pathological diagnosis and recurrence rates.Results: The male to female ratio was 1:2.57, with 50-70 years being the most affected population. The common symptomatology was that of features of raised ICP with motor deficit as the common neurological abnormality. Simpson grade 2 was the common clearance obtained. 3 common sites were parasagittal, sphenoid wing and convexity. Commonest histological type was transitional. Recurrence rate was 6%. This study also pointed out general imaging and intraoperative characteristics of Grade 3 tumours as T2 hyperintensity, heterogeneous, with significant perilesional oedema and intensely contrast enhancing, high vascularity, friable, suckable and ill-defined margins.Conclusions: The study enables us to understand the general trend of presentation, imaging and surgical properties of Meningiomas and to compare with international standards. It also helps us to finger out the possible high-grade lesions even before the pathological diagnosis is obtained.

Wilson's disease: A master of disguise

Wilson's disease (WD), in contrast to many neurogenetic metabolic diseases, can be very effectively treated in acute and chronic stages of the disease. However, early recognition is paramount because delays in treatments have much higher risk of unfavorable clinical outcomes. Identification of WD remains challenging because it is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Initial neurologic problems can be seen in approximately 40%–50% of patients and the rest has either hepatic or primarily psychiatric manifestations. Neurologic and neuropsychiatric problems in WD are quite nonspecific and we discuss the most common clinical problems associated with early and late stages of the disease. Many patients with neurologic symptoms do not have any obvious hepatic symptoms. Most common neurologic abnormalities include dysarthria, dystonia, tremor and Parkinsonism. In spite of its phenotypic heterogeneity, laboratory abnormalities, reflecting abnormal copper homeostasis, are very specific and the diagnosis of WD remains laboratory based. We review most important challenges and pitfalls in laboratory evaluation of WD, including emerging role of genetic testing. Pharmacologic treatments need to be life-long and are focused on restoration of negative copper balance without inducing iatrogenic copper deficiency. The gold standard of therapy is chelation of excessive copper. Chelators may induce further clinical deterioration in some treated patients. We also review most promising novel therapeutic approaches that appear to better control non-ceruloplasmin or free copper because elevation of free copper may be responsible for paradoxical neurologic worsening.

Nevus Sebaceous Syndrome

Nevus sebaceous (NS) is a hamartomatous disorder of the skin and adjacent tissues characterized by epidermal, follicular, sebaceous, and apocrine gland abnormalities. It occurs in approximately 1 in 1,000 live births. A hyperactivation of Ras pathways has been recently assumed to be the cause of this phenotype. NS lesions may be isolated or coupled with extracutaneous manifestations, mostly of the central nervous, ocular, and skeletal systems, or kidneys; in this case, the term “NS syndrome” is used. Cutaneous distribution of NS usually follows the linear patterns known as “lines of Blaschko,” with lines that do not follow the segmental trajectory of the peripheral sensory nerves but instead reflect the streams or trends of growth of embryonic tissues. Histological characteristics of the lesions appear to be actually more decisive than the clinical evaluation to distinguish between the types of epidermal nevus: the typical NS has both papillated epidermal hyperplasia and a predominance of subjacent abnormal follicular–sebaceous glands.Seizures, mental retardation, and/or cognitive developmental delay are the most common neurologic abnormalities associated with NS and usually are present within the first months of life; eye and skeletal involvement may be present as well.The definitive treatment of NS is full-thickness excision. However, the necessity and timing of excision to prevent possible future malignancy are not clear; lasers and photodynamic therapy are alternatives currently being explored for the treatment of NS, with varying degrees of success.

Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction.

Silent cerebral infarction is the most common neurological abnormality in children with sickle cell anemia, affecting 30-40% of 14 year olds. There are no known biomarkers to identify children with silent cerebral infarcts, and the pathological basis is also unknown. We used an unbiased proteomic discovery approach to identify plasma proteins differing in concentration between children with and without silent cerebral infarcts. Clinical parameters and plasma samples were analysed from 51 children (mean age 11.8 years, range 6-18) with sickle cell anemia (HbSS). A total of 19 children had silent cerebral infarcts and 32 normal MRI; the children with silent infarcts had lower HbF levels (8.6 vs. 16.1%, P=0.049) and higher systolic blood pressures (115 vs. 108.6, P=0.027). Plasma proteomic analysis showed 13 proteins increased more than 1.3 fold in the SCI patients, including proteins involved in hypercoagulability (α2-antiplasmin, fibrinogen−γ chain, thrombospondin-4), inflammation (α2-macroglobulin, complement C1s and C3), and atherosclerosis (apolipoprotein B-100). Higher levels of gelsolin and retinol-binding protein 4 were also found in the population with silent infarcts, both of which have been linked to stroke. We investigated the genetic basis of these differences by studying 359 adults with sickle cell disease (199 with silent cerebral infarcts, 160 normal MRIs), who had previously undergone a genome-wide genotyping array. None of the genes coding for the differentially expressed proteins were significantly associated with silent infarction. Our study suggests that silent cerebral infarcts in sickle cell anemia may be associated with higher systolic blood pressure, lower HbF levels, hypercoagulability, inflammation and atherosclerotic lipoproteins.

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

ObjectivesCerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood. The object of this study was to determine neurological progression in CTX.MethodsA literature search on PubMed for “cerebrotendinous xanthomatosis” yielded 91 publications that reported cases of CTX patients. Two independent reviewers abstracted information about the presence and age of onset of neurological abnormalities in published CTX cases. For each neurological abnormality, we estimated the probability of its onset at any given age using cumulative incidence function analysis. We also present our own case series, in which five CTX patients were evaluated.ResultsThe literature search yielded 194 CTX cases (ages ranging from newborn to 67 years old). The most common neurological abnormalities were corticospinal tract abnormalities including weakness, hyperreflexia, spasticity, Babinski sign (59.8%), ataxia (58.8%), cognitive decline (46.4%), and gait difficulty (38.1%); 68 (35.0%) had baseline cognitive problems. Cumulative incidence function analysis revealed that ataxia, gait difficulties, and corticospinal tract abnormalities developed throughout life, while cognitive decline tended to develop later in life. Of the less common neurological abnormalities, seizures, psychiatric changes and speech changes developed throughout life, while parkinsonism and sensory changes tended to develop later in life. Our case series corroborated this temporal pattern of neurological abnormalities.ConclusionWe provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.

Application of array comparative genomic hybridization in Korean children under six years old with global developmental delay

Objective: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who met the following criteria: (1) Korean children under 6 years with global developmental delay; (2) had at least one or more physical or neurological problem other than global developmental delay; and (3) in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male patients and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n = 16), epilepsy (n = 7), and hypotonia (n = 7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2)(p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, four (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.

PurposeRecent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay.MethodsWe included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed.ResultsFifteen male and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome.ConclusionAs chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

Acute Mercury Poisoning in a Group of School Children.

Elemental mercury is a toxic liquid element that is used widely in the home, medicine, agriculture, and industry. It is readily vaporized and inhaled at room temperature. Thereby, inhalation can cause acute or chronic poisoning. Mercury can be found in environmental naturally find but some dangers sources give rise to contaminations. It can be very dangerous to all living organisms, especially children. This study presents the features of mercury poisoning in a group of pediatric cases. Data were obtained for 29 pediatric cases exposed to elemental mercury in a high school chemistry laboratory in Turkey. Patients with a blood mercury level exceeding 10 μg/L or a urine mercury level exceeding 15 μg/L were considered to have mercury poisoning. The patients were treated with 2,3-dimercaptopropane sulfonic acid or D-penicillamine. Twenty-nine children with mercury poisoning were admitted to the hospital. The median duration of exposure was 58 (range, 15-120) minutes. Ten (29%) children were asymptomatic. Physical and neurological examinations were normal in 19 (65.5%) children. The most common presenting complaint was headache. The most common neurological abnormality, partly dilated/dilated pupils, was present in 9 (31%) children. Mercury levels were measured in blood samples every 5 days, and the median blood mercury level was 51.98 (range, 24.9-86.4) μg/L. There was a positive correlation between the duration of exposure and maximum blood/urine mercury levels (P = 0.001). Elemental mercury exposure is potentially toxic; its symptomatology varies, especially in children. Secure storage of mercury and other toxic substances and provision of information about this subject to individuals who might be exposed to mercury and their families might help to prevent mercury poisoning.

Hydroxycarbamide treatment and brain MRI/MRA findings in children with sickle cell anaemia

Silent cerebral infarction (SCI) is the most common neurological abnormality among children with sickle cell anaemia (SCA). The effect of hydroxycarbamide (also termed hydroxyurea) on the development and progression of SCI is unclear. We evaluated brain magnetic resonance imaging/angiography (MRI/MRA) in children with SCA receiving long-term hydroxycarbamide therapy. Fifty participants (median 9·4years, range 1·1-17·3) enrolled in the Hydroxyurea Study of Long-Term Effects (HUSTLE; NCT00305175) underwent brain MRI/MRA and laboratory evaluations before hydroxycarbamide initiation and after 3 and 6years of treatment to maximum tolerated dose. SCI and vascular stenosis were evaluated. At baseline, 3 and 6years, SCI were present in 19/50 (38%), 20/49 (41%), and 7/17 (41%), respectively. At 3years, one child developed a SCI lesion, and another progressed (single lesion to multiple). Lower haemoglobin (Hb) (80g/l vs. 86g/l, P=0·049), fetal Hb (5·0% vs. 10·4%, P<0·001) and oxygen saturation (97% vs. 98%, P=0·027) before hydroxycarbamide initiation were associated with SCI. No patients had vascular stenosis identified on MRA, transient ischaemic attack or stroke. Our data indicate that children receiving hydroxycarbamide over a 3- to 6-year period have a low rate of new or worsening cerebrovascular disease. Further studies are needed to confirm that hydroxycarbamide can prevent the onset and progression of SCI.

Neurological findings in pediatric penetrating head injury at a university teaching hospital in Durban, South Africa: a 23-year retrospective study.

OBJECTIVES Penetrating traumatic brain injuries (TBIs) can be divided into gunshot wounds or stab wounds based on the mechanisms of injury. Pediatric penetrating TBIs are of major concern as many parental and social factors may be involved in the causation. The authors describe the penetrating cranial injuries in pediatric patient subgroups at risk and presenting to the Department of Neurosurgery at the University of KwaZulu-Natal, by assessment of the Glasgow Coma Scale (GCS) score and review of the common neurological manifestations including cranial nerve abnormalities. METHODS The authors performed a retrospective chart review of children who presented with penetrating TBIs between 1985 and 2007 at a university teaching hospital. Descriptive statistical analysis with univariate and multivariate logistic regression was used to assess the variables. RESULTS Out of 223 children aged 16 years and younger with penetrating TBIs seen during the study period, stab wounds were causal in 127 (57%) of the patients, while gunshot injuries were causal in 96 (43%). Eighty-four percent of the patients were male. Apart from abnormal GCS scores, other neurological abnormalities were noted in 109 (48.9%) of the patients, the most common being cranial nerve deficits (22.4%) and hemiparesis. There was a strong correlation between left-sided stab wounds and development of seizures. The mean age of patients with neurological abnormalities was 11.72 years whereas that of patients with no neurological abnormalities was 8.96 years. CONCLUSIONS Penetrating head injuries in children are not as uncommon as previously thought. There was no correlation between the age group of the patients and the mechanism of injury, which implies that stab or gunshot injuries could occur in any of our pediatric population with the same frequency. While gunshot injuries accounted for 56% of the patient population, stab injuries still accounted for 44%. Following penetrating head injuries, neurological abnormalities tend to occur in the older subgroup of the pediatric patients. The most common neurological abnormalities were hemiparesis followed by cranial nerve deficits. Facial nerve deficits were the most commonly seen cranial nerve abnormality. Immediate convulsions were a significant feature in patients with stab injuries to the head compared to those with gunshot injuries.

Factors associated with outcome in 94 hospitalised foals diagnosed with neonatal encephalopathy.

Neonatal encephalopathy is the most common neurological abnormality identified in neonatal foals, but its clinical course has been rarely characterised. To describe factors associated with nonsurvival in a population of foals diagnosed with neonatal encephalopathy. Retrospective cross-sectional clinical study. Cases were selected from equine neonatal (≤14 days of age) admissions between 1996 and 2007. Multivariable logistic regression was used to identify clinical parameters, laboratory variables and therapeutic interventions associated with nonsurvival. A total of 94 foals were included in the study. Median age at admission was 12 h (range 0-96 h). The most frequently identified clinical signs included abnormal udder seeking (59%), abnormal suckle (55%), inability to stand (42%), abnormal gastrointestinal motility (37%), abnormal consciousness (34%) and seizure activity (22%). Overall, 75 (79.8%) foals survived to be discharged from the hospital and 19 foals died or were subjected to euthanasia. Variables significantly associated with nonsurvival in the multivariable model were serum total calcium concentration, serum activity of alkaline phosphatase, recumbency, number of concurrent diseases, and use of vasopressors/inotropes. The model correctly classified 92.0% of cases. Overall survival was good and similar to previous reports. Vasopressors/inotropes were the only therapeutic intervention associated with nonsurvival, suggesting that persistent hypotension is associated with nonsurvival in the current population. Foals with concurrent disease, high total calcium and low alkaline phosphatase at admission, and that were recumbent or required treatment with vasopressors/inotropes during hospitalisation, were significantly less likely to survive.

Synthesis and anticonvulsant activity of certain chalcone based pyrazoline compounds

Convulsions are involuntary, violent, spasmodic and prolonged contractions of skeletal muscles. That means a patient may have epilepsy without convulsions and vice versa. Epilepsy is a common neurological abnormality affecting about 1% of the world population. The primary objectives of these synthesized compounds are to suppress seizures and provide neuroprotection by minimizing the effects from seizure attacks. Here some of the chalcones and chalcone based various pyrazolines were evaluated for anticonvulsant activity. Their structures have been elucidated on the basis of elemental analyses and spectroscopic studies (IR, 1H-NMR & Mass spectroscopy). A preliminary evaluation of the prepared compounds has indicated that some of them exhibit moderate to significant anticonvulsant activity compared to a diazepam standard1-3. All compounds were tested for their anticonvulsant activity using maximal electroshock induced convulsions (MES) in mice at a dose level of 4 mg/kg.b.w. The compounds Ph1, Ph2 , Py2 ,Py3 and Py4 have shown to good anticonvulsant activity when doses are administered as 25mg/ kg.b.w , reduced the phases of seizures severity and found to be active and also increased survival rate. Remaining compounds are less efficacious.

Acute mercury poisoning among children in two provinces of Turkey

Elemental mercury exposure occurs frequently and is potentially a toxic, particularly in children. Children are often attracted to elemental mercury because of its color, density, and tendency to form beads. Clinical manifestations of elemental mercury intoxication vary depending on its form, concentration, route of ingestion, and the duration of exposure. We present data on 179 pediatric cases of elemental mercury poisoning from exposure to mercury in schools in two different provinces of Turkey. Of all patients, 160 children had both touched/played with the mercury and inhaled its vapors, while 26 children had only inhaled the mercury vapor, two children reported having tasted the mercury. The median duration of exposure was 5 min (min 1-max 100), and 11 (6 %) children were exposed to the mercury for more than 24 h at home. More than half of the children (51.9 %) were asymptomatic at admission. Headache was the most common presenting complaint. The results of physical and neurological examinations were normal in 80 (44.6 %) children. Mid-dilated/dilated pupils were the most common neurological abnormality, and this sign was present in 90 (50.2 %) children. Mercury levels were measured in 24-h urine samples daily, and it was shown that the median urinary level of mercury was 29.80 μg/L (min, 2.40 μg/L; max, 4,687 μg/L). A positive correlation was also found between the duration of exposure and urinary mercury levels (r = 0.23, p = 0.001). All patients were followed up for 6 months. On the first follow-up visit performed 1 month after discharge, the neurological examinations of all patients were normal except for those patients with peripheral neuropathy and visual field defects. On the last follow-up visit at the sixth month, only two children still experienced visual field defects. In conclusion, this study is one of the largest case series of mercury intoxication of students in schools. Elemental mercury exposure can be potentially toxic, and its symptomatology is variable, particularly in children. Therefore, school staff and children should be aware of the risk of mercury toxicity. Pediatricians also need to warn parents and children about the hazards of playing with any chemical.

Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia

The dystonias are comprised of a group of disorders that share common neurological abnormalities of involuntary twisting or repetitive movements and postures. The most common inherited primary dystonia is DYT1 dystonia, which is due to loss of a GAG codon in the TOR1A gene that encodes torsinA. Autopsy studies of brains from patients with DYT1 dystonia have revealed few abnormalities, although recent neuroimaging studies have implied the existence of microstructural defects that might not be detectable with traditional histopathological methods. The current studies took advantage of a knock-in mouse model for DYT1 dystonia to search for subtle anatomical abnormalities in the striatum, a region often implicated in studies of dystonia. Multiple abnormalities were identified using a combination of quantitative stereological measures of immunohistochemical stains for specific neuronal populations, morphometric studies of Golgi-stained neurons, and immuno-electron microscopy of synaptic connectivity. In keeping with other studies, there was no obvious loss of striatal neurons in the DYT1 mutant mice. However, interneurons immunoreactive for choline acetyltransferase or parvalbumin were larger in the mutants than in control mice. In contrast, interneurons immunoreactive for neuronal nitric oxide synthase were smaller in the mutants than in controls. Golgi histochemical studies of medium spiny projection neurons in the mutant mice revealed slightly fewer and thinner dendrites, and a corresponding loss of dendritic spines. Electron microscopic studies showed a reduction in the ratio of axo-spinous to axo-dendritic synaptic inputs from glutamatergic and dopaminergic sources in mutant mice compared with controls. These results suggest specific anatomical substrates for altered signaling in the striatum and potential correlates of the abnormalities implied by human imaging studies of DYT1 dystonia.

Tick-borne encephalitis in Poland in years 1993-2008 - epidemiology and clinical presentation. A retrospective study of 687 patients

Tick-borne encephalitis (TBE) is an emerging disease in Europe as in Poland, especially in north-eastern part of the country. The aim of the study was to characterize the epidemiology and clinical features of TBE in this region. Clinical and epidemiological data of 687 patients hospitalized between 1993 and 2008 at the Department of Infectious Diseases and Neuroinfections with the diagnosis of TBE were analysed. In the case of 59 patients (9.5%), the disease was job related (forestry workers, farmers). In the examined group, TBE presented with meningitis in 282 cases (41%), with meningoencephalitis in 353 cases (51.3%) and with meningoencephalomyelitis in 52 cases (7.6%). The most common neurological abnormalities were ataxia in 88 cases (14.17%) and pareses in 53 cases (8.53%). Four patients (0.6%) died, 144 patients (23.2%) were discharged with neurological sequelae of TBE. Two hundred and seventy-two patients (43.8%) required further psychiatric treatment. At least 38 patients (6.1%) developed long-term sequelae and required further hospitalizations. Dexamethasone in the dosage of 6-32 mg was administered in 407 patients for 1-64 days. The diagnosis of TBE sometimes is difficult as the disease symptoms may be non-characteristic. Therefore, a detailed anamnesis is very important in the process of TBE diagnosis and may alone justify lumbar puncture conduction. Despite usually mild course of the disease, patients may develop neurological and psychiatrical sequelae.

A genetic mouse model of adult-onset, pervasive central nervous system demyelination with robust remyelination

Adult-onset demyelinating disorders of the central nervous system represent the most common neurological abnormalities in young adults. Nevertheless, our understanding of disease pathogenesis and recovery in demyelinating disorders remains incomplete. To facilitate investigation into these processes, we have developed a new mouse model system that allows for the induction of dipththeria toxin A subunit expression in adult oligodendrocytes, resulting in widespread oligodendrocyte loss and demyelination of the central nervous system. These mice develop severe ataxia and tremor that correlates with impaired axonal conduction in the spinal cord. Strikingly, these animals fully recover from their motor and physiological defects and display extensive oligodendrocyte replenishment and widespread remyelination. This model system demonstrates the robust reparative potential of myelin in the central nervous system and provides a promising model for the quantitative assessment of therapeutic interventions that promote remyelination.

A comparison of community-residing older adults with frontal and parkinsonian gaits

Frontal gaits (FG) and parkinsonian gaits (PG) are common neurological gait abnormalities in older adults. It may be difficult to distinguish these gaits as they share common clinical characteristics such as unsteadiness, slowing, and shuffling. Of 488 community-residing subjects in an aging study, 11 were diagnosed with FG and 9 with PG at baseline clinical evaluations. Subjects with FG were older than subjects with PG (84.5 vs. 77.7 years, p < 0.001). As expected, parkinsonian signs such as tremor and rigidity were associated with PG and frontal release signs with FG. Subjects with PG had more falls (67% vs. 18%, p = 0.02). They performed worse on a panel of executive function tests, although the scores were significantly different only on the verbal fluency test (17.0 vs. 28.3, p = 0.009). Advancing age was associated with FG (OR = 1.3, 95% CI = 1.1–1.4) but not PG (OR = 1, 95% CI = 0.9–1.1). Medical illnesses were not significantly associated with FG. Diabetes (OR = 4.1, 95% CI = 1.1–15.5), strokes (OR = 4.3, 95% CI = 1.1–17.3), and depression (OR = 5.1, 95% CI = 1.2–20.8) were associated with PG. Despite similar gait characteristics, FG may be distinguished from PG by associated clinical signs, frequency of falls, and the neuropsychological profile. Vascular risk factors and depression were strongly associated with PG, and should be explored further.

Gait disorders.

Disorders of gait and mobility are common neurologic abnormalities of aging and can have disastrous consequences. Etiology is multifactorial, and normal age-related changes are difficult to distinguish from those resulting from the disease. Gait evaluation with special techniques provides scientific understanding of physiologic mechanisms, but experienced clinicians can make diagnoses based on general medical and neurologic history and physical examination. Details to observe include posture, length of stride, width of base, speed and fluidity of motion, arm swing, bilateral symmetry of motor activity, and neurologic signs. Gait disorders are classified into lowest-level, middle-level, and highest-level disorders. In lowest-level gait disorders, only one major afferent system (visual, proprioceptive, or vestibular) is affected and the disturbance is usually self-limited or compensated. Middle-level disorders include myelopathy from cervical spondylosis; spastic hemiparetic gait from unilateral impairment of the corticospinal tract; gaits associated with movement disorders; and dystonic, choreic, hemiballistic, and cerebellar ataxic gaits. Highest-level gait disorders include cautious gait, subcortical dysequilibrium, frontal dysequilibrium, isolated gait ignition failure, frontal gait, primary progressive freezing gait, and psychogenic gait disorders. A treatable cause can often be found. Physical therapy with gait evaluation and training is recommended. Medication must be kept to a minimum.