Article
The clinical aspects of adult hexosaminidase deficiencies.
Developmental neuroscience - 1 Jan 1991
Federico A, Palmeri S, Malandrini A, Fabrizi G, Mondelli M, Guazzi G C
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- 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