The clinical aspects of adult hexosaminidase deficiencies.
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.
Federico
A
A
Istituto di Scienze Neurologiche, Facoltà di Medicina, Università di Siena, Italia.
Palmeri
S
S
Malandrini
A
A
Fabrizi
G
G
Mondelli
M
M
Guazzi
G C
GC
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D004421:Dystonia / Q000209:etiology; D004568:Electrodiagnosis; D005678:G(M2) Ganglioside / Q000378:metabolism*; D005733:Gangliosidoses / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D016472:Motor Neuron Disease / Q000209:etiology; D019965:Neurocognitive Disorders / Q000209:etiology; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D012497:Sandhoff Disease / Q000201:enzymology / Q000473:pathology; D013661:Tay-Sachs Disease / Q000201:enzymology / Q000473:pathology; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency*
D005678:G(M2) Ganglioside; D001619:beta-N-Acetylhexosaminidases