Cerebellar Symptomatology Research Articles

Cerebellar symptomatology following Covid-19 vaccination reveals breast cancer

Cerebellar symptomatology following Covid-19 vaccination reveals breast cancer

Influence of clinical and neurophysiological parameters on the function outcome of the facial nerve after vestibular schwannoma surgery

Introduction: Vestibular schwannomas are benign neoplasms of the nerve seath, and they represent the third most common endocranial tumour, following the meningioma and the pituitary adenomas. The primary symptoms of vestibular schwannomas are hearing loss, tinnitus as well as a balance disorder. The therapy of vestibular schwannoma consists of observation, surgery and radiosurgery. The majority of patients who are good candidates for surgery are already affected by significant hearing impairment, thus one of the primary goals of the surgery is the preservation of facial nerve function. Aim: To analyze the outcome of facial nerve function one-year post-surgery using clinical and neuropsychological parameters. Material and methods: This study analyzed the patient's clinical status on admission along with the neuroradiological characteristics of tumours and the neurophysiological intraoperative parameters and their effect on the facial nerve function in the early postoperative period as well as one year after the surgery using the House–Brackmann scale. Results: A total of 30 patients who underwent surgery from January 1st 2015 to December 31st 2018 at the Clinical Centre of Serbia, Neurosurgery Clinic for vestibular schwannomas were examined. The median age of the patients was 51 years. Hearing loss was present in all patients. Sensitivity drop in the innervation region of n. trigeminus was present in 7 (23.3%) patients, as was tinnitus. Cerebellar symptomatology (76%) was present in the highest percentage of patients. Conclusion: We can conclude that the most important aspects of the facial nerve function are the preoperative state of the facial nerve and the electrophysiological parameters. Although the radical procedure of surgery led to an immediate postoperative outcome, it was not significant for the ultimate outcome of treatment. Thus, radical surgery may be considered to carry the same risk of definitive impairment of the facial nerve function, just like a combination treatment with subtotal resection and stereotaxic radiosurgery.

SURG-05. Survival and functional outcomes in pediatric thalamic and thalamopeduncular low grade gliomas

BACKGROUND: Childhood thalamopeduncular gliomas arise at the interface of thalamus and cerebral peduncle. The optimal treatment is total resection but not at the cost of neurological function. We present long-term clinical and oncological outcomes of maximal safe resection. METHODS: Retrospective review of prospectively collected data: demography, symptomatology, imaging, extent of resection, surgical complications, histology, functional and oncological outcome. RESULTS: During 16-year period (2005-20) 21 patients were treated at our institution. These were 13 girls and 8 boys (mean age 7.6 years). Presentation included progressive hemiparesis in 9 patients, raised intracranial pressure in 9 patients and cerebellar symptomatology in 3 patients. The tumor was confined to the thalamus in 6 cases. Extent of resection was judged on postoperative imaging as total (6), near-total (6) and less extensive (9). Surgical complications included progression of baseline neurological status in 6 patients, 5 of these gradually improved to preoperative status. All tumors were classified as low-grade gliomas. Disease progression was observed in 9 patients (median progression free survival 7.3 years). At last follow-up (median 6.1 years) all patients were alive; median Lansky score of 90. Seven patients were without evidence of disease, 6 had stable disease, 7 stable following progression and 1 had progressive disease managed expectantly. CONCLUSION: Pediatric patients with low grade thalamopeduncular gliomas have excellent long-term functional and oncological outcomes even when gross total resection is not achievable. Surgery should aim at total resection; however neurological function should not be endangered due to excellent chance for long-term survival.

Survival and functional outcomes in paediatric thalamic and thalamopeduncular low grade gliomas.

Childhood thalamopeduncular gliomas arise at the interface of the thalamus and cerebral peduncle. The optimal treatment is total resection but not at the cost of neurological function. We present long-term clinical and oncological outcomes of maximal safe resection. Retrospective review of prospectively collected data: demography, symptomatology, imaging, extent of resection, surgical complications, histology, functional and oncological outcome. During 16-year period (2005-2020), 21 patients were treated at our institution. These were 13 girls and 8 boys (mean age 7.6years). Presentation included progressive hemiparesis in 9 patients, raised intracranial pressure in 9 patients and cerebellar symptomatology in 3 patients. The tumour was confined to the thalamus in 6 cases. Extent of resection was judged on postoperative imaging as total (6), near-total (6) and less extensive (9). Surgical complications included progression of baseline neurological status in 6 patients, and 5 of these gradually improved to preoperative status. All tumours were classified as low-grade gliomas. Disease progression was observed in 9 patients (median progression-free survival 7.3years). At last follow-up (median 6.1years), all patients were alive, median Lansky score of 90. Seven patients were without evidence of disease, 6 had stable disease, 7 stable following progression and 1 had progressive disease managed expectantly. Paediatric patients with low-grade thalamopeduncular gliomas have excellent long-term functional and oncological outcomes when gross total resection is not achievable. Surgery should aim at total resection; however, neurological function should not be endangered due to excellent chance for long-term survival.

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.

White matter disorders represent a spectrum of neurological diseases frequently associated with an unfavourable prognosis and a delay in diagnostics. We report the broad phenotypic spectrum of a rare hypomyelinating leukodystrophy and three novel mutations. Further, we aim to explore the role of the combined clinical and neuroimaging diagnostic approach in the era of whole exome sequencing. We present a clinical, neuroimaging and molecular-genetic characterisation of four patients from three families suffering from a rare genetic leukoencephalopathy. Two severely affected siblings (P1, P2) manifested a profound developmental delay, cerebellar symptomatology, microcephaly, failure to thrive, short stature and delayed teeth eruption with oligodontia. The other two patients (P3, P4), on the contrary, suffer from substantially less serious impairment with mild to moderate developmental delay and cerebellar symptomatology, delayed teeth eruption, or well-manageable epilepsy. In all four patients, magnetic resonance revealed cerebellar atrophy and supratentorial hypomyelination with T2-weight hypointensities in the areas of the ventrolateral thalamic nuclei, corticospinal tract and the dentate nuclei. Using whole-exome sequencing in P1, P2 and P3, and targeted sequencing in P4, pathogenic variants were disclosed in POLR3B, a gene encoding one of 17 subunits of DNA-dependent RNA polymerase III - all patients were compound heterozygotes for point mutations. Three novel mutations c.727A>G (p.Met243Val) and c.2669G>A (p.Arg890His) (P1, P2), and c.1495G>A (p.Met499Val) (P3) were found. Magnetic resonance revealed the characteristic radiological pattern of POLR3-leukodystrophies in our patients. The diagnosis of POLR3-associated leukodystrophies can be significantly accelerated using the combined clinical and neuroradiological recognition pattern. Therefore, it is of crucial importance to raise the awareness of this rare disorder among clinicians. Molecular-genetic analyses are indispensable for a swift diagnosis confirmation in cases of clear clinical suspicion, and for diagnostic search in patients with less pronounced symptomatology. They represent an invaluable tool for unravelling the complex genetic background of heritable white matter disorders.

Diagnosis problems of paraneoplastic cerebellar degeneration

Paraneoplastic cerebellar degeneration (PCD) is a rare form of the paraneoplastic neurological syndrome (PNS). PCD is an autoimmune disease of the central nervous system (CNS) affecting the Purkinje cells and possibly other cells of the cerebellum. PCD is characterized by a rapid onset resulting in disability for a few days or weeks; a slow progredient increase in cerebellar symptomatology is observed less often. PCD develops in 1–3% of cancer patients; its fraction accounts for 25% of all forms of PNS. The mean incidence rate of PCD is about 2 cases per 1,000 cancer patients. PCD develops in patients with cancer of the ovary, uterus and fallopian tubes, with small cell lung cancer and Hodgkin's lymphoma. The incidence rate among females is 3 times higher than that among males. Females aged 50–65 years are most likely to suffer from PCD. PCDs are divided into four main subgroups that differ in terms of prognosis and range of associated antineuronal antibodies. In the last decade, different classes of anti-onconeuronal antibodies associated with PCD have been described; 9 of them have been best studied. Anti-Yo and anti-Hu antibodies are most frequently detected upon PCD. PCD can be also diagnosed without anti-onconeuronal antibodies associated with it or their titer in the blood can be low. Differential diagnosis of PCD is complex and is conducted for a wide range of CNS diseases. No single approach to treating PCD currently exists. Surgical removal of the tumor, the source of production of anti-onconeuronal antigens, followed by radiotherapy and/or chemotherapy, does not solve the problem completely, but may reduce severity of the clinical manifestations of PCD or stabilize the pathological process. This explains the need for rapid and profound search for a tumor in patients suspected with PCD. The authors described a clinical case of an acute debut of PCD in 47-year-old female, 6 months after which, the patient was diagnosed with breast cancer. The problems of PCD diagnosis by neurologists are discussed. The importance of the interdisciplinary approach to diagnosis and follow-up monitoring of patients with this nosology is noted.

Babinski's contributions to cerebellar symptomatology: building the basis of the neurological examination

Several assumptions about the function of the cerebellum and semiotic signs have been described over the centuries. Among the long list of famous researchers who have provided a strong contribution and who have left their names on the highway of cerebellar research, Joseph Babinski appears as a prominent name. The description of various forms of cerebellar symptomatology was a major part of Babinski's work, and clinical terms that he introduced, namely hypermetry , diadochokinesia , and asynergy , remain part of contemporary clinical vocabulary. Babinski studied cerebellar signs in many patients and was able to conduct longitudinal studies that permitted him to understand the evolution of cerebellar dysfunction. Babinski contributions to cerebellar symptomatology continue to influence the most modern theories, including functional and neuropathological studies.

Newly Onset Sinus Bradycardia in the Context of Multiple Sclerosis Relapse

Cardiovascular disorders in acute multiple sclerosis (MS) relapse have been infrequently reported. We present a young multiple sclerosis patient with acute onset of cerebellar symptomatology along with sinus bradycardia. Brain magnetic resonance imaging showed one lesion in the left cerebellar hemisphere which showed postcontrast enhancement and one in the midbrain without postcontrast enhancement. No cardiac pathology was found and symptoms gradually improved after a 5-day course of corticosteroid therapy. It is important to bear in mind the possibility of these rare cardiac symptoms in MS patients, because of their timely recognition and appropriate treatment.

UNUSUAL MANIFESTATION OF MULTIPLE MYELOMA: FOCAL AFFECTION OF CENTRAL NERVOUS SYSTEM IN A PATIENT WITH CHRONIC LYMPHOCYTIC LEUKAEMIA

Involvement of the central nervous system as the first manifestation of multiple myeloma is very rare. To present an unusual case of the primomanifestation of a multiple myeloma in the form of a focal affection of the central nervous system in a patient with chronic lymphocytic leukaemia. A female patient diagnosed with chronic B-lymphocytic leukaemia with gradually increasing right-sided cerebellar symptomatology. The CT examination revealed expansion of the cranial vault with significant compression of brain structures. The tumour was extirpated and the histological examination led to a diagnosis of a plasmocytic myeloma. A thorough examination confirmed the diagnosis of multiple myeloma with significant osteolytic involvement of the skeleton. A combined chemo- and radiotherapy resulted in adjustment in the focal neurological finding, and a partial remission of the multiple myeloma was achieved. The above presented case describes two very unusual states: the primomanifestation of a multiple myeloma in form of a focal affection of the central nervous system, and the coincidence of a multiple myeloma as the second haematological malignancy in a patient with chronic B-lymphocytic leukaemia.

ARNOLD – CHIARI MALFORMATION AND SYRINGOMYELIA

Generally, Arnold – Chiari malformation associated with syringomyelia is not rare. In this case report we present a 52 years old female patient with a history of neck-pain, low-back pain, pain in both arms as well as frequent numbness in the lateral regions of both arms. She also experienced walk disturbance and in her previous history she reports a car accident, twenty-eight years ago. She broke windshield with her forehead, but remained conscious at the time. At the time of admittance at the Department of Neurology, her neurological status was remarkable for cerebellar symptomatology (ataxia, positive Romberg-sign, «finger–nose» test which she did with tremor and was not able to perform «tandem-walk»), hypoestesia of the right side of the body, hyper-reflection of both arms and legs, bilaterally, more pronounced at the right side; right foot subclonus and spastic-ataxic walk. Neurological status could not be explained by previously performed tests: x-ray of cervical spine, lumbal myelography, computerized tomography (CT) of the brain. However, magnetic resonance imaging (MRI) of the brain and cervical spine verified Arnold-Chiari malformation (type I) associated with syringomyelia from C3 to C7. Patient was referred to surgery and subsequent physical rehabilitation.

Thiamine deficiency-related brain dysfunction in chronic liver failure

End-stage chronic liver failure results in thiamine deficiency caused principally by depletion of liver thiamine stores. Chronic liver failure also leads to increased brain ammonia concentrations. Both ammonia and thiamine deficiency result in decreased activity of alpha-ketoglutarate dehydrogenase, a rate-limiting tricarboxylic acid cycle enzyme. Loss of enzyme activity results in a mitochondrial oxidative deficit in brain and consequent increases in brain lactate, oxidative/nitrosative stress, cellular energy impairment and release of proinflammatory cytokines, all of which have been described in brain in end-stage chronic liver failure. Synergistic effects of ammonia exposure and thiamine deficiency could explain the diencephalic and cerebellar symptomatology described in patients with "hepatic encephalopathy". Unsuspected brain lesions due to thiamine deficiency could explain the incomplete resolution of neuropsychiatric symptoms following the use of ammonia-lowering agents or liver transplantation in patients with end-stage chronic liver failure. These findings underscore the need for prompt, effective thiamine supplementation in all patients with chronic liver failure.

The NMDA receptor antagonist CGS 19755 disrupts recovery following cerebellar lesions

Purpose: To test whether activation of NMDA receptors is required for the maintenance of the posture and motor behavior recovered from cerebellar lesions, an NMDA antagonist (CGS 19755) was systemically administered to totally or partially cerebellectomized rats. Methods: Three groups of animals were tested: rats that had undergone a total cerebellectomy four months before drug administration; rats that had undergone a right hemicerebellectomy four months before drug administration; intact control animals. Results: Under drug action in the control animals the postural pattern was slightly influenced, showing a light worsening, and motor skills requiring coordinated motor performance and subtle balance control were markedly worsened. Conversely, in the lesioned groups the cerebellar symptomatology dramatically worsened, and both groups of animals looked like they had just been operated, exhibiting the whole repertoire of postural and motor behaviors of cerebellar origin. In particular, limb hyperflexion, wide-based locomotion and the tendency to side falls were prevalent in the cerebellectomized animals, while tremor and body tilt were prevalent in the hemicerebellectomized group. Conclusion: The reappearance of severe postural and motor symptomatology has to be interpreted as a "decompensation" evoked by the NMDA-receptor antagonist, suggesting the involvement of NMDA receptors in the maintenance of compensation of disturbances of cerebellar origin.

Fast cerebellar oscillation associated with ataxia in a mouse model of angelman syndrome

Ataxia may result from various cerebellar cortex dysfunctions. It is included in the diagnostic criteria of Angelman syndrome, a human neurogenetic condition. In order to better understand the cerebellar dysfunction in this condition, we recorded in vivo cerebellar activity in a mouse model of Angelman syndrome produced by null mutation of the maternal Ube3a gene. We found fast oscillation (approximately 160 Hz) in the cerebellar cortex sustained by abnormally increased Purkinje cell firing rate and rhythmicity. This oscillation is inhibited by sensory stimulation and gap junction or GABA A receptor blockers. A physiologically similar oscillation was previously found in mice lacking calcium-binding proteins that also present ataxia, but never in wild-type mice. We propose that fast oscillation in the cerebellar cortex is implicated in the cerebellar symptomatology of Angelman syndrome.

A new paradigm to analyze observational learning in rats

A new paradigm of learning was developed through observational training in which rats repeatedly observed companion rats performing different spatial tasks. Observer animals were separately housed in small cages suspended over a water maze tank. They repeatedly observed companion actor rats performing spatial tasks differing according to the experimental requirements. After the observational training, observer animals were or not surgically hemicerebellectomized. This surgical ablation was performed to block any further acquisition of new behavioral strategies during actual performance of swimming task. When cerebellar symptomatology stabilized, observer animals were actually tested in the Morris Water Maze (MWM) task they had previously only observed. The observer rats displayed exploration abilities that closely matched the previously observed behaviors. The results obtained indicate that it is possible to learn complex behavioral strategies by observation using this new protocol. Furthermore, acquisition of the single facets that form the behavioral repertoire can be separately studied.

Hipoplasia unilateral de hemisferio cerebeloso: ¿una alteración de origen vascular?

To present nine cases of unilateral cerebellar hypoplasia and to show the clinical alterations and the possible etiology.A retrospective analysis of the clinical, radiological and perinatal features of a series of nine infantile cases with unilateral cerebellar hypoplasia was made. The unilateral cerebellar hypoplasia was demonstrated in all patients after computarized tomography or magnetic resonance (MR) studies. Angiographic study was performed in six patients, in most of them by MR arteriography, with demonstration of vascular anomalies in the cerebellar and/or vertebral arteries in most of the patients. However, other types of malformations of the posterior fossa were also observed: retrocerebellar cyst associated with obstruction of the aqueduct (two cases), cutaneous hemangioma or vascular malformation (two cases), and psychomotor retardation (five cases), being this last disturbance the most frequent clinical alteration.The unilateral cerebellar hypoplasia is a relatively rare malformation and it is more frequently associated with psychomotor retardation than with cerebellar symptomatology. Hypoplasia or aplasia of the cerebellar arteries, of probable early intrauterine origin, would be the cause of this malformation.

Some factors, enfluencing multiple sclerosis (MS)

Some factors, enfluencing multiple sclerosis development, have been studied. Connection of tire disease with living close to metallurgical plants has been confirmed, as well as with prevailing meat products in food and with craniocerebral trauma. For the first time association of multiple sclerosis with infectionous eye diseases has been revealed, as well us with soft tissue absesses, critical dental caries, with contact with birds and with age of a father (senior than 31 y.o.) at the moment of a patient birth. The factors, determining unfavourable course of MS are: craniocerebral trauma without loss of consciousness, contact with agricultural animals, prevailing meat products in nutrition of persons at the age of untill 15 y.o. and disease beginning with cerebellar symptomatology.

Creutzfeldt-Jakob disease in health professionals in Slovakia.

Creutzfeldt-Jakob disease (CJD) is the most important human transmissible spongiform encephalopathy (prion disease), recognised in sporadic, genetic but also iatrogenic forms. The identification of 8 health care workers in a group of 114 definitive CJD patients in Slovakia suggested the possibility of professionally acquired CJD and induced the investigation of potential endo- and exogenous risk factors. In CJD-affected health professionals special attention was paid to a detailed occupational history, including a possible professional contact with CJD patient and to the findings characteristic for iatrogenic CJD: early cerebellar symptomatology, long duration of the disease, absence of typical EEG finding and homozygosity of PRNP gene at codon 129. Analysis of epidemiological, clinical and molecular biological data in investigated group of CJD-affected health professionals gave no evidence of an occupational risk for CJD.

Primary progressive versus relapsing remitting multiple sclerosis in Japanese patients: A combined clinical, magnetic resonance imaging and multimodality evoked potential study

Thirty-five Japanese patients with relapsing remitting multiple sclerosis (RRMS) and 11 Japanese patients with primary progressive MS (PPMS) were compared by a combined clinical, magnetic resonance imaging (MRI) and multimodality evoked potential (MEP) study. Patients with PPMS showed a more common occurrence of gait disturbance as the initial symptoms as well as a more common occurrence of cerebellar symptomatology than did those with RRMS, while spinal cord symptomatology was frequently observed in both conditions. On brain MRI, patients with PPMS had 3 times more lesions than did those with RRMS ( P < 0.001, x 2-test). The percentage of infratentorial lesions was also significantly higher in PPMS than in RRMS on MRI. Moreover, we found a significantly higher frequency of abnormal records in visual, brainstem auditory and somatosensory evoked potentials in PPMS than in RRMS. Interestingly, clinically unexpected abnormalities were significantly more common in PPMS than in RRMS throughout all modalities of MEPs. Thus, in Eastern MS, there exists a distinction between PPMS and RRMS in the MRI and MEP findings as well as in the clinical findings. Our results therefore suggest that there may be two distinct subtypes in MS.

Concomitant Creutzfeldt-Jakob and Alzheimer diseases

We report a 69-year-old female with cerebral and cerebellar symptomatology of 15-month duration. At autopsy, both panencephalopathic Creutzfeldt-Jakob and plaque-predominant Alzheimer diseases were found. Plaque amyloid was exclusively of the beta/A4 type, but abundant abnormal protease-resistant protein was identified by Western blot analysis of brain extracts.

Immunological abnormalities in opsoclonus cerebellopathy

Opsoclonus and other cerebellar symptomatology developed in a patient who underwent mastectomy for adenocarcinoma of the breast. No evidence for metastases was found. Immunological studies demonstrated decreased function of T suppressor cells and hyperreactivity of T helper cells in spite of a normal suppressor/ helper ratio. The clinical condition, as well as the immunological abnormalities normalized under steroid treatment. An autoimmune process as etiopathogenesis of this paraneoplastic syndrome is proposed.