[HTML][HTML] Complex movement disorders in ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome

JL Pedroso, TC Vale, SCG da Costa… - Tremor and Other …, 2020 - ncbi.nlm.nih.gov
Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset
progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and …

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 …

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 …

[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 …

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

B Castellotti, C Mariotti, M Rimoldi, R Fancellu… - Neurogenetics, 2011 - Springer
Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive
disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with …

[HTML][HTML] 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 …

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 …

Nigrostriatal involvement in ataxia with oculomotor apraxia type 1

E Salvatore, A Varrone, C Criscuolo, P Mancini… - Journal of …, 2008 - Springer
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive
neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main …

[HTML][HTML] 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 …

[HTML][HTML] Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

R van Minkelen, M Guitart, C Escofet, G Yoon… - BMC Medical …, 2015 - Springer
Background Ataxia with oculomotor apraxia type 1 is an autosomal-recessive
neurodegenerative disorder characterized by a childhood onset of slowly progressive …