The inherited ataxias
RN Rosenberg, P Khemani, VG Shakkottai - Rosenberg's Molecular and …, 2020 - Elsevier
… early-onset cases of progressive ataxias. In particular, mutations that cause two recessive
forms of ataxia … has even been called AOA with hypoalbuminemia). Cholesterol may also be …
forms of ataxia … has even been called AOA with hypoalbuminemia). Cholesterol may also be …
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
… is the most common combination caused by recessive mutations in a variety of genes, usually
… Ataxia telangiectasia, early-onset ataxia with oculomotor apraxia and hypoalbuminemia (…
… Ataxia telangiectasia, early-onset ataxia with oculomotor apraxia and hypoalbuminemia (…
Discovery of therapeutics targeting oxidative stress in autosomal recessive cerebellar ataxia: a systematic review
… of AT caused by mutations in the ataxia-telangiectasia mutated (… Ataxia with oculomotor
apraxia type 2 (AOA2) is … (ARSACS) is characterized by early-onset ataxia between age 1 and 14 …
apraxia type 2 (AOA2) is … (ARSACS) is characterized by early-onset ataxia between age 1 and 14 …
Neurological manifestations of primary immunodeficiency diseases
ÖF Aydin, B Anlar - Clinical pediatrics, 2018 - journals.sagepub.com
… from ataxia telangiectasia mutated (ATM) gene mutations. … Abnormal eye movements:
strabismus, oculomotor apraxia, … Early-onset cerebral ischemic attacks have been observed in …
strabismus, oculomotor apraxia, … Early-onset cerebral ischemic attacks have been observed in …
A novel SETX mutation in a Taiwanese patient with autosomal recessive cerebellar ataxia detected by targeted next-generation sequencing, and a literature review
PI Chiang, TW Liao, CM Chen - Brain Sciences, 2022 - mdpi.com
… early-onset progressive cerebellar ataxia, polyneuropathy, and elevated levels of alpha-fetoprotein.
It is caused by mutations … are common features and ocular motor apraxia (OMA) is a …
It is caused by mutations … are common features and ocular motor apraxia (OMA) is a …
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents
… ataxia, caused by mutations in the APTX gene. The disease is characterized by early-onset
cerebellar ataxia, oculomotor apraxia … The aim of this study was to detect the disease-causing …
cerebellar ataxia, oculomotor apraxia … The aim of this study was to detect the disease-causing …
[HTML][HTML] Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
M Sun, AK Johnson, V Nelakuditi, L Guidugli… - Genetics in …, 2019 - Elsevier
… Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [AR] c.837G>A variant …
Our results indicate that SPTBN2-related SCAR14 appears to be a rare cause of ataxia …
Our results indicate that SPTBN2-related SCAR14 appears to be a rare cause of ataxia …
Clinical and molecular spectrum of degenerative cerebellar ataxia: a single centre study
S Balakrishnan, S Aggarwal, M Muthulakshmi… - Neurology …, 2022 - journals.lww.com
… A previously reported pathogenic mutation in the corresponding EVOLV4 gene was … ,
associated with early-onset ataxia with oculomotor apraxia with hypoalbuminemia. The phenotype …
associated with early-onset ataxia with oculomotor apraxia with hypoalbuminemia. The phenotype …
[HTML][HTML] … induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation …
… Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia
characterized by early-onset … AOA1 is related to mutations in the aprataxin (APTX) gene …
characterized by early-onset … AOA1 is related to mutations in the aprataxin (APTX) gene …