Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Biopsy
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Genes, Recessive

Share to Genetic Carrier Screening

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 1840098
DOI: 10.1159/000112174

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The clinical aspects of adult hexosaminidase deficiencies.PMID 1840098Read ↗

Sandhoff disease in the elderly: a case study.Semantic proximity Read ↗

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?Semantic proximity Read ↗

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.Semantic proximity Read ↗

Atypical presentation of late-onset Sandhoff disease: a case report.Semantic proximity Read ↗

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.Semantic proximity Read ↗

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.Semantic proximity Read ↗

GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.Semantic proximity Read ↗

Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.Semantic proximity Read ↗

GM1 gangliosidosis type 2 in two siblings.Semantic proximity Read ↗

[Clinical aspects of early-stage neurological forms of Gaucher disease].Semantic proximity Read ↗

[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].Semantic proximity Read ↗

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.