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Article

CAMTA1 Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia.

Clinical genetics - 1 Jan 2026

Lee So Young, Choi Jun Hwan, Lee Hyun Jung

Abstract excerpt

Complete absence of symptoms in a mother carrying CAMTA1 c.1544C>A contrasts with severe congenital ataxia in her son. Early intervention at 16 months led to exceptional recovery (GMFM-88: 56.5% → 96%), demonstrating unprecedented intrafamilial variability and neuroplasticity potential in CAMTA1-related disorders.

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Identifiers

PMID: 40921433
DOI: 10.1111/cge.70065

Genes

CAMTA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

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

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CAMTA1 Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia.PMID 40921433Read ↗

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Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.Semantic proximity Read ↗

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