Form Of Ataxia Research Articles

A CASE OF SENSORY ATAXIA AND ITS MANAGEMENT THROUGH PANCHAKARMA

Sensory ataxia is both a symptom and a sign in neurology. It is a form of ataxia (loss of coordination) caused not by cerebellar dysfunction but by loss of sensory input into the control of movement. Sensory ataxia is dis-tinguished from cerebellar ataxia by the presence of near-normal coordination when the patient visually observes the movement but marked worsening of coordination when the eyes are shut, indicating a positive Romberg's sign. Sensory ataxia also lacks the associated features of cerebellar ataxia, such as pendular tendon reflexes, scanning dysarthria, nystagmus and broken pursuit eye movements. Sensory ataxia can manifest in sensory large fibre peripheral neuropathies and conditions causing dysfunction of the spinal cord's dorsal columns due to vari-ous disorders: infectious, auto-immune, metabolic, toxic, vascular and hereditary diseases. There is no direct correlation to sensory ataxia in Ayurvedic classics; based on pathology, it is nearer to Kaphavrita vyana vata. Objectives--By considering sensory ataxia as Kaphavrita vyana vata, the present study has attempted to evalu-ate the efficiency of Ayurvedic formulation in the conservative management of sensory ataxia. Met hod-A case of sensory ataxia, initially patient was treated with Dashamoola kaya seka followed by Shastika shalipindasweda, followed by Balavarnakara niruha basti1 and Anuvasana basti with ksheera bala taila as per Kala Basti schedule (modified), followed by Shaman aushadhi. Result-Patient was observed for symptomatic improvement based on the questionnaire over graded signs & symptoms, also observed for clinical examination before & after treatment. Conclusion: The study has shown that conservative management of sensory ataxia can be managed effectively through the Ayurvedic principle and improve quality of life.

Dissociative motor disorders — occupational dyskinesia

Occupational dyskinesia is a functional damage to the central nervous system, characterized by an impaired coordination of precise movements that are necessary to perform certain operations. The disease develops gradually and manifests in employees with a long work experience. At the same time, other motor functions are preserved. There are convulsive, paretic, ataxic, trembling, neuralgic and mixed clinical forms of this pathology at the present stage. In the initial period, the diagnosis of occupational dyskinesia causes certain difficulties associated with the spread of symptoms exclusively to one action. It is also difficult to verify the presence of dyskinesia itself, which is described by a patient. Treatment should be started as early as possible, as it is effective only at the initial stage of the disease. A complete and sufficiently long cessation of professional activity is necessary. Treatment is long and comprehensive. Preventive measures involve the correct organization of work with an even distribution of professional workload. Since occupational dyskinesia is diagnosed late, at the stage of already developed clinical manifestations, the prognosis for recovery is doubtful. The professional prognosis is unfavorable. Patients need reorientation and retraining for related professions.

Ataxic variant of Guillain Barre syndrome: a case report

A 17-year-old girl was admitted after acute onset of unsteady gait succeeding acute gastroenteritis. Neurological examination reported normal power in all four limbs, impaired finger-nose, heel-shin tests, areflexia and ataxic gait. We eliminated other diseases with cerebellar symptoms; for example, Wernicke encephalopathy, multiple sclerosis, cerebellar vascular disease , encephalitis in the brain stem and cerebellum. Blood serum collected from the patient during the acute phase showed no anti-ganglioside antibodies. As the patient presented with evident cerebellar ataxia without muscle weakness, ophthalmoplegia or proprioceptive sensory disruption a diagnosis of ataxic form of Guillain-Barré syndrome (GBS) after nerve conduction studies. Though ataxic GBS is not a settled impression, we should have to give heed to the potential existence of such a scarce GBS variant.

EFFECTIVENESS OF PHYSICAL THERAPY AND REHABILITATION IN IMPROVING MOTOR SKILLS AND MENTAL FUNCTION IN CHILDREN WITH CEREBRAL PALSY

Cerebral palsy was first described by William John Little in 1846. There are many definitions of cerebral palsy that vary from author to author. However, we can say that cerebral palsy (CP) is a chronic non-progressive brain damage, postural and body motility disorder. Apart from sensorimotor abnormalities, some cases are accompanied by mental disorders as well as disorders of cognitive functions. It can occur during pregnancy, at birth or during the postnatal period, ie. prenatal, perinatal and postnatal - equally in both sexes. There are different classifications of cerebral palsy: according to changes in muscle tone, according to topographic features and according to the severity of the clinical picture.According to changes in muscle tone, they are divided into: Spastic form, Athetoid form, Ataxic form, Hypotonic form and Mixed form. According to the topography they are classified as: Diplegia, Quadriplegia, Hemiplegia, Triplegia and Monoplegia Physical therapy program is determined based on the clinical form of the disease. When determining a rehabilitation program, the principle of an individual approach is followed. Rehabilitation includes: physical medicine, kinesitherapy, reflex exercises according to Vojta, manual massage, thermotherapy, education of parents for rehabilitation at home; orthopedic aids; special education techniques. The aim of this study is to determine the role and impact of Physical Medicine and Rehabilitation in the treatment of children with Cerebral Palsy in early childhood. The research was conducted at the University of Southeast Europe - (Stul University) at the Faculty of Health Sciences in the Department of Physical Therapy and Rehabilitation, over a period of 6 months, from the beginning of April to the end of September 2023. 61 patients with cerebral palsy are included in the research, of which 28 are male, and the remaining 33 patients are female. The patients included in the research are classified into groups according to: gender, age and clinical form of cerebral palsy. The treatment of Cerebral Palsy (CP) has a complex character and includes medical, pedagogical and social rehabilitation. The individual tasks of the rehabilitation are determined after a functional examination of the motor abilities, where the main role is played by muscle tone, normal and pathological reflex motor activity, in the period up to 1 year of age. The goal of treatment with Physical Therapy and Rehabilitation is to achieve correct and timely development of movements and correction of pathological movement stereotypes (models), which occurred as a result of brain tissue damage. As for the motor deficit, kinesitherapy plays a major role. Established modern methods for kinesitherapy are the specialized methods for neuromuscular re-education of Vojta and Bobath. The Rood and Rabat methods werw also be used to facilitate the required movements and train coordination. Physical therapy and rehabilitation combined with kinesitherapy have an exceptional positive effect in: prevention of pathological primitive reflexes;creation and automation of normal active movements;saving irregular positions of the limbs and the whole body;establishment of balance and correct pattern of movement; fight against spasticity, secondary contractures and deformities; improvement of coordination and awareness of the body in relation to the environment.

The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review.

Ataxia telangiectasia (A-T) is a rare, multisystem progressive condition that typically presents in early childhood. In the absence of cure, people with A-T require coordinated multidisciplinary care to manage their complex array of needs and to minimize the disease burden. Although symptom management has proven benefits for this population, including improved quality of life and reduced complications, there is a need for guidance specific to the nursing and allied healthcare teams who provide care within the community. A scoping review, adopting the Joanna Briggs Institute methodology, was undertaken. It aimed to identify and map the available expertise from nursing and allied healthcare and management of children and young people with A-T ≤ 18years of age. A rigorous search strategy was employed which generated a total of 21,118 sources of evidence, of which 50 were selected for review following screening by experts. A range of interventions were identified that reported a positive impact on A-T-related impairments, together with quality of life, indicating that outcomes can be improved for this population. Most notable interventions specific to A-T include therapeutic exercise, inspiratory muscle training, and early nutritional assessment and intervention. Further research will be required to determine the full potential of the identified interventions, including translatability to the A-T setting for evidence related to other forms of ataxia. Large gaps exist in the nursing and allied health evidence-base, highlighting a need for robust research that includes children and young people with A-T and their families to better inform and optimize management strategies.

Atypical imaging and clinical presentation of fulminant subacute sclerosing panencephalitis

Subacute sclerosing panencephalitis (SSPE) is a late progressive fatal central nervous system sequelae of measles infection. The diagnosis is made based on clinical and electroencephalography (EEG) findings and confirmed by elevated titers of anti-measles antibodies in cerebrospinal fluid. The usual clinical presentation is in the form of progressive behavioral change, cognitive decline, and myoclonic jerks with some cases presenting in an atypical manner in the form of ataxia, epilepsy, and stroke. EEG is quiet characteristic in the form of periodic discharges of slow wave complex. Magnetic resonance imaging (MRI) early in the disease is usually normal with abnormal scans showing focal leukodystrophy, predominantly in the posterior cerebral white matter, and development of cortical atrophy with disease progression. Cord involvement is not common in SSPE. We report a child with SSPE who had initial presentation with cerebellar ataxia, acute progression of encephalitis, and atypical EEG findings. MRI brain on the initial presentation showed very subtle and focal abnormality which later progressed to have disseminated brain lesions and dorsal cord myelitis and further in the disease course showed cerebral venous sinus thrombosis. This case report emphasizes that SSPE can have very atypical presentation with rapid deterioration and can mimic as acute encephalitis or demyelinating disease.

A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by balance impairment and mobility limitations, which both increase the risk of falling. The objective of this study was to explore the effects of a rehabilitation program aimed at increasing trunk and lower limb motor control on balance and walking abilities, and accomplishment of activities of daily living. In this exploratory study, a group-supervised rehabilitation program was performed three times a week for 8 weeks (two sessions at a rehabilitation gym and one pool session). Outcome measures included the Ottawa Sitting Scale, Berg Balance Scale, modified Activities-specific Balance Confidence Scale, 30-Second Chair Stand Test, 10-Meter Walk Test, Barthel Index, and Scale for the Assessment and Rating of Ataxia. Significant improvements in balance, trunk control, maximal and self-selected walking speed difference, ataxia severity and accomplishment of specific activities of daily living were noted for the whole group at the end of the program. At the individual level, all participants improved beyond the standard error of measurement in at least two outcome measures. Also, most participants reported many perceived improvements related to balance, posture and functional mobility. This study provides encouraging results on the effects of a rehabilitation program for ambulatory people with ARSACS. Group intervention could have a positive impact on their daily lives and improve the health care service offered to this population. Future studies with larger sample sizes including control groups and other forms of ataxia are necessary to validate our results to generalize them.

Melittin ameliorates motor function and prevents autophagy-induced cell death and astrogliosis in rat models of cerebellar ataxia induced by 3-acetylpyridine

BackgroundCerebellar ataxia (CA) is a form of ataxia that adversely affects the cerebellum. This study aims to investigate the therapeutic effects of melittin (MEL) on a 3-acetylpyridine-induced (3-AP) cerebellar ataxia (CA) rat model. MethodsInitially, CA rat models were generated by 3-AP administration followed by the subcutaneous injection of MEL. The open-field test was used for the evaluation of locomotion and anxiety. Immunohistochemistry was also conducted for the autophagy markers of LC3 and Beclin1. In the next step, the morphology of the astrocyte, the cell responsible for maintaining homeostasis in the CNS, was evaluated by the Sholl analysis. ResultsThe findings suggested that the administration of MEL in a 3-AP model of ataxia improved locomotion and anxiety (P < 0.001), decreased the expression of LC3 (P < 0.01) and Beclin1 (P < 0.05), increased astrocyte complexity (P < 0.05) and reduced astrocyte cell soma size (P < 0.001). ConclusionsOverall, the findings imply that the MEL attenuates the 3-AP-induced autophagy, causes cell death and improves motor function. As such, it could be used as a therapeutic procedure for CA due to its neuroprotective effects.

A Review on Recent Advances of Cerebral Palsy

This narrative review summarizes the latest advances in cerebral palsy and identifies where more research is required. Several studies on cerebral palsy were analyzed to generate a general idea of the prevalence of, risk factors associated with, and classification of cerebral palsy (CP). Different classification systems used for the classification of CP on a functional basis were also analyzed. Diagnosis systems used along with the prevention techniques were discussed. State-of-the-art treatment strategies for CP were also analyzed. Statistical distribution was performed based on the selected studies. Prevalence was found to be 2-3/1000 lives; the factors that can be correlated are gestational age and birth weight. The risk factors identified were preconception, prenatal, perinatal, and postnatal categories. According to the evidence, CP is classified into spastic (80%), dyskinetic (15%), and ataxic (5%) forms. Diagnosis approaches were based on clinical investigation and neurological examinations that include magnetic resonance imaging (MRI), biomarkers, and cranial ultrasound. The treatment procedures found were medical and surgical interventions, physiotherapy, occupational therapy, umbilical milking, nanomedicine, and stem cell therapy. Technological advancements in CP were also discussed. CP is the most common neuromotor disability with a prevalence of 2-3/1000 lives. The highest contributing risk factor is prematurity and being underweight. Several preventions and diagnostic techniques like MRI and ultrasound were being used. Treatment like cord blood treatment nanomedicine and stem cell therapy needs to be investigated further in the future to apply in clinical practice. Future studies are indicated in the context of technological advancements among cerebral palsy children.

Post-Varicella Neurological Complications: A Preliminary Observation from a Tertiary Care Centre of Eastern India.

Objectives:The objective of this study is to analyse detailed clinical presentations, imaging findings, and outcome in a series of 17 cases (n = 17) with neurological complications following acute varicella infection.Methods:It is an observational study on the patients who presented to the neurology outpatient department of our institute with neurological abnormalities following acute varicella infection within the last 3 months.Results:Neuroimaging, either computed tomography or magnetic resonance imaging, cerebrospinal fluid analysis, electroencephalography and nerve conduction studies were performed in all the patients along with other specialized investigations as per clinical context. The age of presentation varied from childhood to middle age (median age was 23 years) and range of clinical spectrum was also wide. Peripheral nervous system involvement was more common in the form of Guillain–Barré syndrome (29.4%) and isolated lower motor neuron facial nerve palsy (23.5%) compared to central nervous system (CNS) involvement. CNS involvement was documented in the form of ataxia (11.76%), myelopathy (17.6%), stroke (5.88%) and encephalitis (5.88%).Conclusion:Chickenpox is a common viral disease and most patients recover without any complication. Although rare, neurological complications following acute varicella infection may have myriad presentations ranging from lower motor neuron facial palsy to life-threatening encephalitis. Compared to other studies, varicella encephalitis and ataxia were not so common in our study group. Response to therapy was uniformly good except in the patients presenting with ataxia. Response was particularly good to central and peripheral demyelinating disorders.

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3

IntroductionAccumulation of polyglutamine (polyQ) ataxin-3 (ATXN3) contributes to the pathobiology of spinocerebellar ataxia type 3 (SCA3). Recently, we showed that polyQ ATXN3 is elevated in the plasma and cerebrospinal fluid (CSF) of SCA3 patients, and has the potential to serve as a biological marker for this disease [1]. Based on these findings, we investigated whether polyQ ATXN3 can also be detected in urine samples from SCA3 patients. MethodsWe analyzed urine samples from 30 SCA3 subjects (including one pre-symptomatic subject), 35 subjects with other forms of ataxia, and 37 healthy controls. To quantify polyQ ATXN3 protein levels, we used our previously developed immunoassay. ResultsPolyQ ATXN3 can be detected in the urine of SCA3 patients, but not in urine samples from healthy controls or other forms of ataxia. There was a significant statistical association between polyQ ATXN3 levels in urine samples and those in plasma. Further, the levels of polyQ ATXN3 urine associated with an earlier age of SCA3 disease onset. ConclusionAs clinical trials for SCA3 advance, urine polyQ ATXN3 protein has potential to be a useful, non-invasive and inexpensive biomarker for SCA3.

Hashimoto Encephalopathy

Hashimoto encephalopathy (HE) has been recognized as a new clinical disease based on an autoimmune mechanism associated with Hashimoto's thyroiditis. HE is successfully treated with steroids. In 2005, we discovered serum autoantibodies against the NH2-terminal of α-enolase (NAE) as a highly specific diagnostic biomarker for HE. We analyzed the serum anti-NAE autoantibodies and clinical features in many cases of HE from institutions in Japan and other countries. Approximately half of the patients with HE had anti-NAE antibodies. In our study, HE was widely distributed in patients aged 50-60 years. Most patients with HE were in euthyroid states, and all patients had anti-thyroid antibodies. The common neuropsychiatric features of these patients were consciousness disturbance and psychosis, followed by cognitive dysfunction, involuntary movements, seizures, and ataxia. Abnormalities in EEG and decreased cerebral blood flow on the brain SPECT were common findings. In contrast, abnormalities on the brain MRI were rare except for diffuse subcortical lesions and limbic lesions. Patients with HE had varied clinical phenotypes, including acute encephalopathy, chronic psychiatric form, and other particular clinical presentations, such as limbic encephalitis, progressive cerebellar ataxia, and Creutzfeldt-Jakob disease (CJD)-mimic form. The cerebellar ataxic form of HE clinically mimics spinocerebellar degeneration (SCD) and is characterized by the absence of nystagmus, absent or mild cerebellar atrophy, and lazy background activities on electroencephalography (EEG). Taken together, these features should indicate the possibility of encephalopathy associated with thyroid disorders.

Staying Strong Toolbox: Co-design of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia.

Physical activity has positive health implications for individuals living with neurodegenerative diseases. The success of physical activity programs, particularly in culturally and linguistically diverse populations, is typically dependent on their alignment with the culture, lifestyle and environmental context of those involved. Aboriginal families living in remote communities in the Top End of Australia invited researchers to collaborate with them to co-design a physical activity and lifestyle program to keep individuals with Machado-Joseph disease (MJD) walking and moving around. The knowledge of Aboriginal families living with MJD, combined with findings from worldwide MJD research, formed the foundation for the co-design. An experience-based co-design (EBCD) approach, drawing from Indigenous and Participatory methodologies, was used. An expert panel of individuals with lived experience of MJD participated in a series of co-design phases. Prearranged and spontaneous co-design meetings were led by local community researchers within each phase. Data was collected using a culturally responsive ethnographic approach and analysed thematically. Sixteen panel members worked to develop the ‘Staying Strong Toolbox’ to cater for individuals with MJD who are ‘walking strong’; or ‘wobbly’; or ‘in a wheelchair’. Based on the ‘Staying Strong Framework’, the Toolbox was developed as a spiral bound A3 book designed to guide the user to select from a range of activities to keep them walking and moving around and to identify those activities most important to them to work on. The ‘Staying Strong Toolbox’ is a community driven, evidence based resource for a physical activity and lifestyle program for Aboriginal families with MJD. The Toolbox provides a guide for health professionals and support workers to deliver person-centred support to Aboriginal families with MJD, and that can be modified for use by other families with MJD or people with other forms of ataxia around the world.

New developments for spinal cord stimulation.

Spinal cord stimulation (SCS) is a well-established therapy for the treatment of chronic neuropathic pain. Newer SCS waveforms have improved patient outcomes, leading to its increased utilization among many pain conditions. More recently, SCS has been used to treat some symptoms in several movement disorders because of its good profile tolerability and capacity to stimulate local and distant areas of the central nervous system. After the original experimental findings in animal models of Parkinson's disease (PD) in the late 2000s, several studies have reported the beneficial clinical effects of SCS stimulation on gait in PD patients. Additionally, the spinal cord has emerged as a potential therapeutic target to treat essential and orthostatic tremor, some forms of ataxia, and atypical parkinsonisms. In this chapter, we describe the most recent advances in SCS for pain and the rationale and potential mechanism of action of stimulating the spinal cord for treating movement disorders, focusing on its network modulation. We also summarize the main clinical studies performed to date as well as their limitations and future perspectives.

Gluten Ataxia Associated with Dietary Protein Cross-Reactivity with GAD-65

Cross-reactivity occurs when antibodies formed against an antigen have amino acid sequence homology with another target protein. This allows antibodies formed against the antigen to also bind to similar proteins that share structural similarity. Autoimmune reactions to gluten can lead to sporadic ataxia in susceptible genotypes due to cross-reactivity. With gluten ataxia, dietary consumption of gluten proteins induce immunological cross-reactivity with glutamic-acid decarboxylase-65 (GAD-65) target proteins found in the cerebellum. Implementation of a strict gluten-free diet has been shown to improve the expression of this form of ataxia with most patients in this subgroup. However, there are some subjects that have limited clinical responses to only a strict gluten-free diet. Dietary protein cross-reactivity to other food proteins, besides gluten, that also share structural similarity to GAD-65 may also play a role in this reaction. In this case report, we report of a patient suffering from gluten-ataxia in which a gluten-free diet alone did not generate significant clinical outcomes until other foods that cross-react with GAD-65 were also removed from their diet.

Evaluation of Risk Factors for Epilepsy in Pediatric Patients with Cerebral Palsy.

Cerebral palsy (CP) is a set of etiologically diverse symptoms that change with the child’s age. It is one of the most frequent causes of motor disability in children. CP occurs at a frequency of 1.5 to 3.0 per 1000 live-born children. CP often coexists with epilepsy, which is drug-resistant in a high number of cases. The aim of the present study was to analyze the associations between preconception, prenatal, perinatal, neonatal, and infancy risk factors for epilepsy in a group of pediatric patients with CP. We retrospectively analyzed 181 children with CP (aged 4–17 years at diagnosis), hospitalized at the Department of Pediatrics and Developmental Age Neurology in Katowice in the years 2008–2016. Division into particular types of CP was based on Ingram’s classification. Data were analyzed using STATISTICA 13.0 (STATSOFT; Statistica, Tulsa, OK, USA). Epilepsy was diagnosed in 102 children (56.35%), of whom 44 (43%) had drug-resistant epilepsy; only in 15 cases (14.71%) was epilepsy susceptible to treatment. The incidence of epilepsy varied between the types of CP. It occurred significantly more often in children with tetraplegia (75%), ataxic form (83%), and mixed form (80%) in comparison to diplegia (32%) and hemiplegia (38%). Maternal hypertension was found to be a risk factor for epilepsy in CP patients (OR = 12.46, p < 0.001) as well as for drug-resistant epilepsy (the odds ratio (OR) = 9.86, p = 0.040). Delivery by cesarean section increased the risk of epilepsy in the CP patients over two-fold (OR = 2.17, p = 0.012). We observed also that neonatal convulsions significantly increased the risk for epilepsy (OR = 3.04, p = 0.011) as well as drug-resistant epilepsy (OR = 4.02, p = 0.002). In conclusion, maternal hypertension, neonatal convulsions, and delivery by cesarean section were the most important factors increasing the risk of epilepsy as well as drug-resistant epilepsy in the analyzed group of patients with CP.

Ataxia with Impaired DNA Repair in Adults: A Case Series and Review of the Literature

Introduction . Ataxia with impaired DNA repair is a group of inherited diseases with a wide range of neurological and extraneural manifestations. There are some difficulties in the differential diagnosis of this group of ataxias due to significant clinical polymorphism. Objective . To analyze the clinical presentation, laboratory and instrumental examinations data of a series of genetically confirmed cases of ataxia with impaired DNA repair in adult patients. Material and methods . 55 patients with ataxia of degenerative origin were examined. Clinical evaluation, nerve velocity study, brain MRI, alpha-fetoprotein, immunoglobulins, cholesterol and albumin, creatine phosphokinase activity were performed. Massive parallel sequencing (MPS) was used for genotyping, including the original multigene panel. Results . 8 (14.5%) patients with various forms of ataxia with impaired DNA repair were verified: 5 patients with ataxia-telangiectasia, 3 — with ataxia with oculomotor apraxia types 1 and 2. The clinical features of this forms are characterized, the prevalence of atypical forms of ataxia-telangiectasia in a sample of Russian adult patients is revealed. Phenotypes of ataxia with oculomotor apraxia of the 1 and 2 types corresponded to the classical presentation. Several identified mutations in the ATM and SETX genes are described for the first time. Conclusion . Ataxia with impaired DNA repair is a common group of ataxias in adult Russian patients. They are represented by ataxia-telangiectasia, ataxia with oculomotor apraxia types 1 and 2, often due to new mutations. MPS is the method of choice for genotyping of these forms of ataxia.

Cerebral Palsy: Current Opinions on Definition, Epidemiology, Risk Factors, Classification and Treatment Options.

Cerebral palsy (CP) is one of the most frequent causes of motor disability in children. According to the up-to-date definition, CP is a group of permanent disorders of the development of movement and posture, causing activity limitations that are attributed to non-progressive disturbances that occurred in the developing foetal or infant brain. The CP definition has evolved over time; the problem is aetiologically and clinically very heterogeneous. According to European data, the average frequency of CP is 2.08 per 1000 live births, but in the group of children born with a body weight below 1500 g, the frequency is 70 times higher when compared with the group of children with a body weight over 2500 g at birth. The risk factors for CP can be divided into pre-conception, prenatal, perinatal and postnatal ones. CP commonly co-exists with epilepsy, in particular drug-resistant epilepsy, but also with mental retardation, visual and hearing impairment, as well as feeding and behavioral disorders. The degree of motor problem varies from mild to very severe making the child totally dependent on caregivers. Cerebral palsy is divided into forms depending on the type of motor disorders which dominate the clinical presentation; the traditional classifications by Ingram and Hagberg have now been replaced by the Surveillance of Cerebral Palsy in Europe classification which divides CP into spastic, dyskinetic and ataxic forms. Although cerebral palsy is a clinical diagnosis, modern diagnostic imaging provides information that allows the division of the results of magnetic resonance imaging in children with cerebral palsy into five groups according to the magnetic resonance imaging classification system. Just as the clinical presentation and the factors predisposing for CP are very diverse, treatment is also a very complex problem. Modern treatment of spasticity includes both botulinum toxin therapies and surgical techniques, eg, rhizotomy. The authors present current views on definitions, risk factors, diagnostics and treatment of CP as well as comorbid problems, eg, drug-resistant epilepsy.

Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.

Heme and Fe-S clusters regulate a plethora of essential biological processes ranging from cellular respiration and cell metabolism to the maintenance of genome integrity. Mutations in genes involved in heme metabolism and Fe-S cluster biogenesis cause different forms of ataxia, like posterior column ataxia and retinitis pigmentosa (PCARP), Friedreich’s ataxia (FRDA) and X-linked sideroblastic anemia with ataxia (XLSA/A). Despite great efforts in the elucidation of the molecular pathogenesis of these disorders several important questions still remain to be addressed. Starting with an overview of the biology of heme metabolism and Fe-S cluster biogenesis, the review discusses recent progress in the understanding of the molecular pathogenesis of PCARP, FRDA and XLSA/A, and highlights future line of research in the field. A better comprehension of the mechanisms leading to the degeneration of neural circuity responsible for balance and coordinated movement will be crucial for the therapeutic management of these patients.

Grafted human chorionic stem cells restore motor function and preclude cerebellar neurodegeneration in rat model of cerebellar ataxia.

Cerebellar ataxia (CA) is a form of ataxia that adversely affects the cerebellum. Cell replacement therapy (CRT) has been considered as a potential treatment for neurological disorders. In this report, we investigated the neuro-restorative effects of human chorionic stem cells (HCSCs) transplantation on rat model of CA induced by 3-acetylpyridine (3-AP). In this regard, HCSCs were isolated and phenotypically determined. Next, a single injection of 3-AP was administered for ataxia induction, and bilateral HCSCs implantation was conducted 3days after 3-AP injection, followed by expression analysis of a number of apoptotic, autophagic and inflammatory genes as well as vascular endothelial growth factor (VEGF) level, along with assessment of cerebellar neurodegeneration, motor coordination and muscle activity. The findings revealed that grafting of HCSCs in 3-AP model of ataxia decreased the expression levels of several inflammatory, autophagic and apoptotic genes and provoked the up-regulation of VEGF in the cerebellar region, prevented the degeneration of Purkinje cells caused by 3-AP toxicity and ameliorated motor coordination and muscle function. In conclusion, these data indicate in vivo efficacy of HCSCs in the reestablishment of motor skills and reversal of CA.