Atypical presentation of ataxia-oculomotor apraxia type 1

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Atypical presentation of ataxia-oculomotor apraxia type 1. / Shahwan, A; Byrd, Philip; Taylor, Alexander; Nestor, T; Ryan, S; King, MD.

In: Developmental Medicine and Child Neurology, Vol. 48, 01.06.2006, p. 529-532.

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@article{7a6c978cbbd340349f15c33126b032ac,
title = "Atypical presentation of ataxia-oculomotor apraxia type 1",
abstract = "A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor apraxia (OMA) and other variable features has been reported. Ataxia-oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive impairment, and cerebellar atrophy at an early age. We describe a male child with AOA1 who is homozygous for the G837A (W279X) mutation in the APTX gene. He presented at the age of 3 years 6 months with some atypical features including absence of OMA, chorea, and cerebellar atrophy. These manifestations, in addition to peripheral neuropathy, appeared at 8 years of age. We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia-telangiectasia have been excluded.",
author = "A Shahwan and Philip Byrd and Alexander Taylor and T Nestor and S Ryan and MD King",
year = "2006",
month = "6",
day = "1",
doi = "10.1017/S0012162206001113",
language = "English",
volume = "48",
pages = "529--532",
journal = "Developmental Medicine and Child Neurology",
issn = "0012-1622",
publisher = "Wiley",

}

RIS

TY - JOUR

T1 - Atypical presentation of ataxia-oculomotor apraxia type 1

AU - Shahwan, A

AU - Byrd, Philip

AU - Taylor, Alexander

AU - Nestor, T

AU - Ryan, S

AU - King, MD

PY - 2006/6/1

Y1 - 2006/6/1

N2 - A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor apraxia (OMA) and other variable features has been reported. Ataxia-oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive impairment, and cerebellar atrophy at an early age. We describe a male child with AOA1 who is homozygous for the G837A (W279X) mutation in the APTX gene. He presented at the age of 3 years 6 months with some atypical features including absence of OMA, chorea, and cerebellar atrophy. These manifestations, in addition to peripheral neuropathy, appeared at 8 years of age. We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia-telangiectasia have been excluded.

AB - A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor apraxia (OMA) and other variable features has been reported. Ataxia-oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive impairment, and cerebellar atrophy at an early age. We describe a male child with AOA1 who is homozygous for the G837A (W279X) mutation in the APTX gene. He presented at the age of 3 years 6 months with some atypical features including absence of OMA, chorea, and cerebellar atrophy. These manifestations, in addition to peripheral neuropathy, appeared at 8 years of age. We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia-telangiectasia have been excluded.

UR - http://www.scopus.com/inward/record.url?scp=33646703739&partnerID=8YFLogxK

U2 - 10.1017/S0012162206001113

DO - 10.1017/S0012162206001113

M3 - Article

C2 - 16700949

VL - 48

SP - 529

EP - 532

JO - Developmental Medicine and Child Neurology

JF - Developmental Medicine and Child Neurology

SN - 0012-1622

ER -