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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An extrapyramidal disorder occurring in three generations of a family (only males) is described The clinical features were progressive dementia and extrapyramidal signs without choreiform hyperkinesia. The youngest patient (onset of disease at the age of 22 years) showed tremor, rigidity, ataxia, convulsions, and myoclonus. The neuropathologic findings were characterized by isolated symmetrical degeneration of the corpus striatum and diffuse cortical atrophy without affecting other cerebrospinal neuronal systems. The clinical features of this familial disorder and its relation to other types of familial striatal degeneration and to the juvenile form of Huntington's chorea are discussed.
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PMID:[Familial striatal degeneration (author's transl)]. 54 75

A family is described with essential non-progressive chorea occurring in an autosomal dominant inheritance pattern over four generations. A few families with an apparently similar disorder have been reported previously. This condition is characterized by early childhood onset of chorea which is not progressive and is compatible with a long life. It is not associated with dementia, seizures, rigidity, or ataxia. It is a socially embarrassing condition and may, sometimes, be associated with behavioural problems and learning difficulties. For genetic counselling, it is important to distinguish this disorder from Huntington's disease and other hereditary disorders associated with chorea.
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PMID:Familial essential ("benign") chorea. 100 46

One case of ataxic, pyramidal and demential syndrome associated with retinitis pigmentosa occurred in a family with Huntington's disease (36 patients among 7 generations). The disease started at 15 years of age. Ataxia was transiently attenuated by isoniazid. The patient died of the disease at 26 years of age.
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PMID:[A progressive case of ataxia in a family of Huntington's chorea]. 144 54

We investigated 13 patients with Huntington's disease and assessed gait by filming and by gait analyzer before and after increasing haloperidol dosage, until chorea was suppressed or side effects intervened. The severity of chorea and ataxia was scored blindly from videotapes. Gaits were abnormal in 12 of 13 patients and 5 of 6 patients who had symptoms for less than 5 years. Clinical characteristics included wide-based station, lateral swaying, spontaneous knee flexion, variable cadence, and parkinsonian features. Biomechanical analysis illustrated that gait characteristics varied in each walk, with a mean decrease in velocity, stride length, and cadence. Haloperidol treatment decreased chorea but did not affect gait patterns. Ataxia occurs early in the disease, has a distinct but variable pattern, is unrelated to chorea, and is not improved by haloperidol.
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PMID:The gait abnormality of Huntington's disease. 316 9

We found that the rate of progression of two adult hereditary neurologic disorders (dominant ataxia and Huntington disease) correlated inversely with the age at onset. The earlier the onset, the more rapid the course; the later the onset, the slower the course. Alzheimer disease/senile dementia followed a similar pattern. The rate of progression of a nonhereditary progressive neurologic disorder, ALS, showed the opposite trend.
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PMID:Progression rate and age at onset are related in autosomal dominant neurologic diseases. 621 73

The case of a childhood form of Huntington's disease in a 9-year-old boy is reported. The patient had complaints of generalized convulsions from the age of 4, and progressive motor disabilities and mental deterioration from the age of 6. His father had suffered from Huntington's disease for 10 years, and his paternal uncle and aunt, who died at the age of 52, were diagnosed as having this disease. Neurological examination revealed severe mental retardation and marked pyramidal signs. He has no signs or symptoms of involuntary movement, muscular rigidity or ataxia. Axial computed tomography showed marked dilatation of the frontal horns and suggested caudate atrophy. This case is atypical of a childhood form of Huntington's disease because of the lack of muscular rigidity and choreiform movement. But computed tomographic findings correspond to that typically seen in cases of adult Huntington's disease.
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PMID:A childhood form of Huntington's disease associated with marked pyramidal signs. 623 14

Seven patients with Huntington disease were treated with aminooxyacetic acid (AOAA), an inhibitor of gamma-aminobutyric acid aminotransferase (GABA-T), in an effort to alleviate symptoms by increasing brain GABA content. AOAA was given orally in a placebo-controlled crossover trial in which patients, relatives, and three of the evaluating physicians remained blind. Toxic symptoms occurred in all seven patients when AOAA dosage was increased beyond 2 mg per kilogram per day, and included drowsiness, ataxia, seizures, and psychotic behavior. In five patients who took AOAA for 4 months, no clinical improvement was observed. Biochemical monitoring showed that less inhibition of hepatic GABA-T enzyme activity was achieved than in patients treated with large doses of isoniazid. Results of this trial neither support nor exclude the possible therapeutic usefulness of increasing brain GABA content in Huntington disease.
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PMID:Failure of aminooxyacetic acid therapy in Huntington disease. 644 91

In a ten-year study of Machado-Joseph-Azorean disease (MJAD), three distinct syndromes emerged: ataxia syndrome (11 patients), ataxia-motor neuron-extrapyramidal syndrome (four), and ataxia-motor neuron-extrapyramidal syndrome (two). Three patients had such advanced disease that classification was not possible. These syndromes more accurately describe functional deficits than did previous classifications. Spread of neuronal degeneration from the cerebellar system to the motor neurons of the spinal cord and brain stem was found for the first time, to my knowledge, in five patients and to the motor neurons and the extrapyramidal system in two of 14 patients followed up. There is no dementia, and peripheral neuropathy is a late complication common to all syndromes. World presence of MJAD could have begun with Portuguese overseas expansion in 1415. Alternatively, the possibility of multiple spontaneous mutations must be considered. Genetic sameness depends on a specific genetic marker, which is not yet available. For accurate genetic counseling, a nonspecific biologic marker for this disease is sought, and electronystagmography changes may prove helpful. This is particularly important as this illness, like Huntington's disease, is usually not manifest until the child-bearing years or after.
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PMID:Machado-Joseph-Azorean disease. A ten-year study. 647 27

A polyglutamine expansion (encoded by a CAG repeat) in specific proteins causes neurodegeneration in Huntington's disease (HD) and four other disorders, by an unknown mechanism thought to involve gain of function or toxicity of the mutated protein. The pathological threshold is 37-40 glutamines in three of these diseases, whereas the corresponding normal proteins contain polymorphic repeats of up to about 35 glutamines. The age of onset of clinical manifestations is inversely correlated to the length of the polyglutamine expansion. Here we report the characterization of a monoclonal antibody that selectively recognizes polyglutamine expansion in the proteins implicated in HD and in spinocerebellar ataxia (SCA) 1 and 3. The intensity of signal depends on the length of the polyglutamine expansion, and the antibody also detects specific pathological proteins expected to contain such expansion, in SCA2 and in autosomal dominant cerebellar ataxia with retinal degeneration, whose genes have not yet been identified.
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PMID:Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. 747 79

Recently, it has been demonstrated that unstable trinucleotide repeats are the etiologic factor in myotonic dystrophy, fragile-X syndrome, Kennedy's disease, Huntington's disease, spinocerebellar ataxia type 1, and dentatorubral-pallidoluysian atrophy. All available evidence suggests that these expanded trinucleotide repeats, or unstable DNA, are the biological basis of the clinical phenomenon of genetic anticipation. Two components of anticipation, increased severity and earlier age of onset in subsequent generations, have been widely observed in schizophrenia. We review the evidence for and against genetic anticipation in schizophrenia. Although the major criticisms of the anticipation hypothesis can be questioned, so can the evidence in favor of it. We conclude that molecular genetic approaches might be the most useful means of resolving ambiguity in clinical arguments about the origin of the anticipation-like phenomenon in schizophrenia.
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PMID:Genetic anticipation in schizophrenia: pro and con. 758 22


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