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

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.

Molecular genetics and metabolism - 1 Jan 2013

Pierson Tyler Mark, Torres Paola A, Zeng Bei-Jin, Glanzman Allan M, Adams David, Finkel Richard S, Mahuran Don J, Pastores Gregory M, Tennekoon Gihan I, Kolodny Edwin H

Abstract excerpt

A 12 year-old female presented with a seven-year history of progressive muscle weakness, atrophy, tremor and fasciculations. Cognition was normal. Rectal biopsy revealed intracellular storage material and biochemical testing indicated low hexosaminidase activity consistent with juvenile-onset G(M2)-gangliosidosis. Genetic evaluation revealed compound heterozygosity with two novel mutations in the hexosaminidase...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to beta-N-Acetylhexosaminidases

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

Share to Motor Neuron Disease

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 23158871
DOI: 10.1016/j.ymgme.2012.10.023
PMCID: PMC3601980

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

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.PMID 23158871Read ↗

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 geneSemantic proximity Read ↗

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Semantic proximity Read ↗

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.Semantic proximity Read ↗

Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.Semantic proximity Read ↗

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.Semantic proximity Read ↗

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.Semantic proximity Read ↗

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.Semantic proximity Read ↗

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.Semantic proximity Read ↗

Expanding the phenotype spectrum of β-mannosidosisSemantic proximity Read ↗

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.Semantic proximity Read ↗

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.Semantic proximity Read ↗

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.Semantic proximity Read ↗

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