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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
1981-8-27
|
| pubmed:abstractText |
A progressive spinocerebellar degenerative disorder was characterized in nine patients, aged 11 to 37 years, from four unrelated Ashkenazi Jewish families; affected individuals had markedly deficient beta-hexosaminidase A activity. Symptoms included early onset of cerebellar signs (tremor, incoordination, and dysarthia) and, with maturity, the development of upper and lower motor neuron disorders, marked dysarthia, and ataxia. Three older patients, aged 26, 32, and 37 years, had dementia or recurrent psychotic episodes. Membrane-bound lamellar cytoplasmic inclusions, consistent with lysosomal ganglioside accumulation, were observed in rectal ganglia. The activity of beta-hexosaminidase A was markedly deficient in all sources analyzed. Parents had activities consistent with heterozygosity, confirming autosomal-recessive transmission of the beta-hexosaminidase A-deficient gene and the adult variant disorder. Residual beta-hexosaminidase A activity, partially purified by anion-exchange chromatography from cultured skin fibroblasts of the affected individuals, was heat-labile and co-electrophoresed with normal beta-hexosaminidase A. These findings suggest that these patients were allelic for a new beta-hexosaminidase A mutation and may represent a genetic compound of this allele and the allele causing Tay-Sachs disease.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0028-3878
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
31
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
787-98
|
| pubmed:dateRevised |
2007-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:6454083-Adolescent,
pubmed-meshheading:6454083-Adult,
pubmed-meshheading:6454083-Child,
pubmed-meshheading:6454083-Child, Preschool,
pubmed-meshheading:6454083-Diagnosis, Differential,
pubmed-meshheading:6454083-Female,
pubmed-meshheading:6454083-Friedreich Ataxia,
pubmed-meshheading:6454083-Ganglia, Autonomic,
pubmed-meshheading:6454083-Heterozygote,
pubmed-meshheading:6454083-Hexosaminidases,
pubmed-meshheading:6454083-Homozygote,
pubmed-meshheading:6454083-Humans,
pubmed-meshheading:6454083-Infant,
pubmed-meshheading:6454083-Infant, Newborn,
pubmed-meshheading:6454083-Leukocytes,
pubmed-meshheading:6454083-Male,
pubmed-meshheading:6454083-Muscles,
pubmed-meshheading:6454083-Tay-Sachs Disease,
pubmed-meshheading:6454083-Tears,
pubmed-meshheading:6454083-beta-N-Acetylhexosaminidases
|
| pubmed:year |
1981
|
| pubmed:articleTitle |
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|