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Article

An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome.

Journal of child neurology - 1 Jan 1991

Kornberg A J, Shield L K

Abstract excerpt

A father and son with presumed dominantly inherited, nonprogressive, early-onset cerebellar ataxia are reported. The clinical features are similar to those in other reports of this rare disorder, but magnetic resonance imaging revealed generalized atrophy of the cerebellum and not localized vermal atrophy as previously noted. This family illustrates either an extended phenotype of the previously reported disorder...

Topics

Adolescent
Cerebellum
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Neurologic Examination
Pedigree
Phenotype
Spinocerebellar Degenerations

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2002196
DOI: 10.1177/088307389100600104

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2002196-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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