g(m2)-ganglioside and Dystonia

g(m2)-ganglioside has been researched along with Dystonia* in 3 studies

Reviews

1 review(s) available for g(m2)-ganglioside and Dystonia

Article	Year
The clinical aspects of adult hexosaminidase deficiencies. Developmental neuroscience, 1991, Volume: 13, Issue:4-5 The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance. Topics: Adolescent; Adult; beta-N-Acetylhexosaminidases; Biopsy; Cerebellar Ataxia; Child; Diagnosis, Differential; Dystonia; Electrodiagnosis; G(M2) Ganglioside; Gangliosidoses; Genes, Recessive; Genetic Carrier Screening; Humans; Motor Neuron Disease; Neurocognitive Disorders; Pedigree; Phenotype; Radiography; Sandhoff Disease; Tay-Sachs Disease	1991

Article

Year

The clinical aspects of adult hexosaminidase deficiencies.

Developmental neuroscience, 1991, Volume: 13, Issue:4-5

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.

Topics: Adolescent; Adult; beta-N-Acetylhexosaminidases; Biopsy; Cerebellar Ataxia; Child; Diagnosis, Differential; Dystonia; Electrodiagnosis; G(M2) Ganglioside; Gangliosidoses; Genes, Recessive; Genetic Carrier Screening; Humans; Motor Neuron Disease; Neurocognitive Disorders; Pedigree; Phenotype; Radiography; Sandhoff Disease; Tay-Sachs Disease

1991

Other Studies

2 other study(ies) available for g(m2)-ganglioside and Dystonia

Article	Year
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature. European neurology, 1986, Volume: 25, Issue:2 A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms associated with chronic GM2 gangliosidosis. Topics: Adult; Athetosis; Chorea; Dystonia; G(M2) Ganglioside; Gangliosidoses; Humans; Male; Movement Disorders; Syndrome	1986
Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis. Annals of neurology, 1984, Volume: 15, Issue:4 A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-old level of mental development. The mean percentages of beta-hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9, 9.8, and 13.0%, respectively. These values are higher than in Tay-Sachs disease but are similar to levels seen in late-onset or adult cases of GM2 gangliosidosis. This patient appears to represent a new phenotype of juvenile GM2 gangliosidosis having dystonia as the dominant symptom. Topics: Child; Dystonia; Fibroblasts; G(M2) Ganglioside; Gangliosidoses; Hexosaminidases; Humans; Leukocytes; Male; Phenotype	1984

Article

Year

Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.

European neurology, 1986, Volume: 25, Issue:2

A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms associated with chronic GM2 gangliosidosis.

Topics: Adult; Athetosis; Chorea; Dystonia; G(M2) Ganglioside; Gangliosidoses; Humans; Male; Movement Disorders; Syndrome

1986

Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

Annals of neurology, 1984, Volume: 15, Issue:4

A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-old level of mental development. The mean percentages of beta-hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9, 9.8, and 13.0%, respectively. These values are higher than in Tay-Sachs disease but are similar to levels seen in late-onset or adult cases of GM2 gangliosidosis. This patient appears to represent a new phenotype of juvenile GM2 gangliosidosis having dystonia as the dominant symptom.

Topics: Child; Dystonia; Fibroblasts; G(M2) Ganglioside; Gangliosidoses; Hexosaminidases; Humans; Leukocytes; Male; Phenotype

1984