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Ataxia with Oculomotor Apraxia Type 1—New Mutation, Characteristic Phenotype

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).

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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.

Type: Article
Title: Ataxia with Oculomotor Apraxia Type 1—New Mutation, Characteristic Phenotype
DOI: 10.1002/mdc3.12725
Publisher version: https://doi.org/10.1002/mdc3.12725
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.`
Keywords: Ataxia with oculomotor apraxia
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/10068247
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