[HTML][HTML] Ataxia oculomotor apraxia type 1 in the siblings of a family: A novel mutation

P Karimzadeh, SK Kakhki, SSE Nejad… - Iranian journal of …, 2017 - ncbi.nlm.nih.gov
Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of
autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over …

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia

SA Bohlega, JM Shinwari, LJ Al Sharif, DS Khalil… - BMC medical …, 2011 - Springer
Background Autosomal recessive ataxias represent a group of clinically overlapping
disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with …

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

X Wu, N Dong, Z Liu, T Tang, M Liu - Frontiers in Neurology, 2022 - frontiersin.org
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in
an autosomal recessive manner. It is mainly characterized by childhood-onset progressive …

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

S D'Arrigo, D Riva, S Bulgheroni… - Journal of child …, 2008 - journals.sagepub.com
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease
characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and …

Familial cognitive impairment with ataxia with oculomotor apraxia

M Mahajnah, L Basel-Vanagaite… - Journal of child …, 2005 - journals.sagepub.com
Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized
by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive …

Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review

R Albaradie, A Alharbi, G Alsaffar… - Experimental and …, 2022 - spandidos-publications.com
Cerebellar ataxia is a disorder characterized by a broad spectrum of phenotypes. Ataxia with
oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease presenting with early …

Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene

AQ Rana, OA Khan, R Akthar - Annals of Indian Academy of …, 2013 - journals.lww.com
Ataxia, although rare, can be a symptom of many debilitating movement disorders.
Hereditary ataxias are one subset of this condition and manifest when there is a genetic …

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype

C Criscuolo, P Mancini, F Sacca, G De Michele… - Neurology, 2004 - AAN Enterprises
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder
characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral …

Atypical presentation of ataxia–oculomotor apraxia type 1

A Shahwan, PJ Byrd, AMR Taylor, T Nestor… - … medicine and child …, 2006 - cambridge.org
A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor
apraxia (OMA) and other variable features has been reported. Ataxia–oculomotor apraxia …

[PDF][PDF] Very late onset in ataxia oculomotor apraxia type I

C Criscuolo, P Mancini, V Menchise, F Sacca… - Annals of …, 2005 - iris.unina.it
Missense and truncating mutation in APTX gene are responsible of ataxia with oculomotor
apraxia type 1 (AOA1) an autosomal recessive disorder characterized by early onset …