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Article

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2010

Romaniello Romina, Zucca Claudio, Tonelli Alessandra, Bonato Sara, Baschirotto Cinzia, Zanotta Nicoletta, Epifanio Roberta, Righini Andrea, Bresolin Nereo, Bassi Maria T, Borgatti Renato

Abstract excerpt

BACKGROUND: Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6). OBJECTIVE: To describe a three generations family in which a spectrum of different phenotypes, ranging from SCA6...

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Identifiers

PMID: 20682717
DOI: 10.1136/jnnp.2008.163402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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