Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship
- PMID: 175770
- DOI: 10.1001/archneur.1976.00500020048008
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship
Abstract
Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop, spasticity, mild ataxia of limbs and trunk, dystonic features, and dysarthria. Vision and optic fundi are normal, verbal intelligence is stable, and no seizures have occurred. The sister of the patients died at 16 years of age with the same illness. Autopsy showed diffuse neuronal storage, predominating in subcortical areas, consisting of membranocytoplasmic bodies, zebra bodies, and complex lamellar structures. GM2 ganglioside was increased in her brain. Hexosaminidase A was decreased in serum and leukocytes of the living patients, and was in the range for carriers of Tay-Sachs disease in their parents. The disease found in this family represents a new, more indolent variant of GM2 gangliosidosis.
Similar articles
-
GM2-gangliosidosis, AB variant: clinico-pathological study of a case.Acta Neuropathol. 1975 Dec 19;33(3):207-26. doi: 10.1007/BF00688395. Acta Neuropathol. 1975. PMID: 174379
-
AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics.Neurology. 1986 Mar;36(3):438-40. doi: 10.1212/wnl.36.3.438. Neurology. 1986. PMID: 3081832
-
The gangliosidoses.Hum Pathol. 1975 Sep;6(5):555-69. doi: 10.1016/s0046-8177(75)80041-4. Hum Pathol. 1975. PMID: 170187 Review.
-
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.Proc Natl Acad Sci U S A. 1989 Apr;86(7):2413-7. doi: 10.1073/pnas.86.7.2413. Proc Natl Acad Sci U S A. 1989. PMID: 2522660 Free PMC article.
-
The clinical aspects of adult hexosaminidase deficiencies.Dev Neurosci. 1991;13(4-5):280-7. doi: 10.1159/000112174. Dev Neurosci. 1991. PMID: 1840098 Review.
Cited by
-
Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease.Tremor Other Hyperkinet Mov (N Y). 2023 Feb 22;13:6. doi: 10.5334/tohm.756. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 36873913 Free PMC article. No abstract available.
-
Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.Tremor Other Hyperkinet Mov (N Y). 2022 Dec 27;12:34. doi: 10.5334/tohm.726. eCollection 2022. Tremor Other Hyperkinet Mov (N Y). 2022. PMID: 36618998 Free PMC article. Review.
-
AAV gene therapy for Tay-Sachs disease.Nat Med. 2022 Feb;28(2):251-259. doi: 10.1038/s41591-021-01664-4. Epub 2022 Feb 10. Nat Med. 2022. PMID: 35145305 Free PMC article.
-
Natural history of Tay-Sachs disease in sheep.Mol Genet Metab. 2021 Sep-Oct;134(1-2):164-174. doi: 10.1016/j.ymgme.2021.08.009. Epub 2021 Aug 21. Mol Genet Metab. 2021. PMID: 34456134 Free PMC article.
-
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.Neurosci Lett. 2021 Nov 1;764:136195. doi: 10.1016/j.neulet.2021.136195. Epub 2021 Aug 25. Neurosci Lett. 2021. PMID: 34450229 Free PMC article. No abstract available.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Research Materials