Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing

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Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Surkova E.I.

OOO «Mikrotesty v biologii, meditsine i veterinarii», Moskva, Rossija

Konovalov F.A.

«Genomed» Ltd, Moscow, Russia

Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing

Authors:

Rudenskaia G.E., Surkova E.I., Konovalov F.A.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(3): 10‑14

DOI: 10.17116/jnevro20181183110-14

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To cite this article:

Rudenskaia GE, Surkova EI, Konovalov FA. Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing. S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(3):10‑14. (In Russ.)
https://doi.org/10.17116/jnevro20181183110-14

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

Ataxias with oculomotor apraxia (AOA) belong to autosomal recessive ataxias. Their common feature is oculomotor apraxia: inability to coordinate eye movements not due to muscle weakness. Next-generation sequencing (NGS) gives unique opportunities of rare disorders diagnostics and discovering of new forms, including AOA. In 2015, AOA type 4 produced by PNKP mutations was delineated in a group of Portuguese patients. We diagnosed AOA4 in a 9-year-old boy from Byelorussian family. He presented with ataxia since 2 years and deterioration in 8 years, oculomotor apraxia, dystonic hyperkinesia, dysarthria, polyneuropathy, borderline/mildly impaired intelligence, cerebellar atrophy on MRI and moderate hypercholesterolemia. Panel NGS detected two PNKP mutations: c.1123G>T (p.Gly375Trp) common in Portuguese patients, and novel c.1270_1283dupACAAACCCAGACGC (p.Ala429fs). This is one of a few world AOA4 cases and first non-Portuguese case with «Portuguese» common mutation. The case illustrates NGS diagnostic value, particularly in rare heterogeneous disorders like AOA.

Keywords:

ataxia with oculomotor apraxia

type 4 (AOA4)

PNKP gene

common mutation

next-generation sequencing (NGS)

Authors:

Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Surkova E.I.

OOO «Mikrotesty v biologii, meditsine i veterinarii», Moskva, Rossija

Konovalov F.A.

«Genomed» Ltd, Moscow, Russia

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