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Results for “CEREBELLAR DISEASES”

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PubMed2004

[From gene to disease; autosomal dominant cerebellar ataxias].

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically homogeneous, yet genetically heterogeneous group of cerebellar neurodegenerative disorders for which at least 20 genes or loci have been identified to date. Trinucleotide repeat expansions constitute the predominant pathogenic mutations in about two-thirds of Dutch families with ADCAs, even though the mutational mechanisms are variable as well.

Cerebellar Ataxia↗
PubMed1976

Cerebellar degeneration with Hodgkin disease. An immunological study.

A 21-year-old woman with subacute cerebellar degeneration was found to have Hodgkin lymphoma. Radiation therapy for the lymphoma halted the progression of her neurological disease. Using an immunofluorescent technique, we found the patient's serum to have antibodies to cerebellar Purkinje cells.

Adult↗
PubMedDate not supplied

[Ataxic form of Jakob-Creutzfeldt syndrome].

The authors describe a man aged 43 years with a typical onset of the disease with cerebellar signs and progressive dementia prevailing during a 4 month course of the illness. Neuropathological examination demonstrated subacute spongiform encephalopathy with significant although not overwhelming damage to the cerebellar cortex. The case is an example of the ataxic form of this disease isolated in 1965. In the clinical diagnosis of Creutzfeldt-Jakob disease cerebellar signs may play a similarly important role as myoclonia and characteristic EEG curve.

Adult↗
PubMed2002

Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration.

BACKGROUND: Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration, occurs usually as a sporadic disorder with onset in childhood. The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations. OBJECTIVE: To investigate the clinical, anatomical, and electrophysiological characteristics of NIID that affect the central nervous system and the central and peripheral components of the autonomic nervous system in 2 successive generations of a family. DESIGN: Case report. SETTING: Tertiary care hospital. PATIENTS: A 53-year old woman and her sons, aged 28 and 25 years. Symptoms began in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence, erectile dysfunction in the men, and recurrent orthostatic hypotension. METHODS: We used results of clinical neurological evaluations; cranial magnetic resonance imaging; skeletal muscle and sphincter electromyography (EMG); peripheral nerve conduction and bulbocavernosus reflex studies; autonomic function tests; brainstem, visual, somatosensory, and motor evoked potentials; auditory and vestibular testing; metabolic and molecular genetic testing; and muscle and rectal biopsy with immunohistochemistry. RESULTS: We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. Magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1. Results of peripheral nerve conduction studies were normal. Sphincter EMG findings were abnormal in 2 of the 3 cases, and results of autonomic function tests were abnormal in the same 2. The EMG in 1 case revealed a chronic neurogenic pattern in the distal limb muscles. Metabolic and molecular genetic testing revealed no abnormal findings. Results of the muscle biopsy were negative, but results of the rectal biopsy revealed eosinophilic ubiquitinated intranuclear inclusions in neurons. CONCLUSION: Transmission of NIID in 2 generations presenting with autonomic failure and cerebellar ataxia was hereditary.

Adult↗
PubMed1987

Paraneoplastic cerebellar degeneration associated with Hodgkin's disease.

A case of paraneoplastic cerebellar degeneration (PCD) associated with Hodgkin's disease is presented. The features that make this case particularly interesting are the simultaneous occurrence of PCD with a relapse of Hodgkin's disease, which has been present for 17 years, and the arrested progression of cerebellar dysfunction after a subacute onset. Cerebellar atrophy was revealed by computed tomography and magnetic resonance imaging. In contrast to two previously reported cases, anti-Purkinje-cell antibodies were not detected.

Adult↗
PubMedDate not supplied

[RAMSAY-HUNT DISEASE].

Explore the source record for details and available documents.

Cerebellar Diseases↗
PubMed1980

[Otoneurologic symptomatology in hereditary cerebellar ataxia (Pierre Marie disease)].

Results of otoneurological examinations of 16 patients (from 6 families) with hereditary cerebellar ataxia have been analyzed. It has been found that all the patients exhibit vestibular function disturbances that manifest clinically by the truncal and supranuclear syndrome. Of other otoneurological signs the most frequent is dysphagia (in 10 out of the 16 patients) which is due not only to the dyscoordination of the glottal muscles, but also to a paresis of the epiglottis, this paresis also being a sign of supranuclear pathology. The absence of the otoneurological disturbances in practically healthy relatives of the patients (12 persons) requires further accumulation of the experimental material, since it can be a proof, that there is no pathological carrying of the gene of hereditary cerebellar ataxia (Pierre Marie's disease) and this may be used subsequently for medico-genetic consultations.

Adolescent↗