Balint, B; Rispoli, V; Latorre, A; Bhatia, KP; (2019) Ataxia with Oculomotor Apraxia Type 1—New Mutation, Characteristic Phenotype. Movement Disorders Clinical Practice 10.1002/mdc3.12725. (In press).

Text Bhatia_Ataxia with Oculomotor Apraxia Type 1—New Mutation, Characteristic Phenotype_AAM.pdf - Accepted Version Access restricted to UCL open access staff Download (665kB)

Abstract

A 22‐year‐old man is the third of four siblings from a family with a high degree of consanguinity. At 18 months, he was first noted to be unsteady and subsequently developed a slurred speech. His symptoms deteriorated, and at the age of five, he was a wheelchair user. He then developed abnormal posturing of the limbs, as well as a more fidgety appearance and cognitive decline. His older sister was similarly affected and had additional scoliosis, and his younger sister manifested a pigeon‐toed walk at the age of eight.

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