Autosomal recessive spinocerebellar ataxias

Definition:

Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and often the sensory nerves. They may present as a pure cerebellar syndrome or are associated with neurological symptoms such as peripheral neuropathy, dystonia, chorea, cognitive impairment, optic atrophy, seizures or extra neurological symptoms such as cardiomyopathy and diabetes mellitus in Friedreich ataxia. The main clinical features are staggering gait with frequent falls, upper limb dysmetria, impairment of speech, dysphagia, and abnormalities of eye movement.

References:

[1]. Adriana P Rebelo, et al. Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain. 2021 Jun 22;144(5):1467-1481. [Content Brief]

[2]. Christina Evers, et al. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. Am J Med Genet A. 2016 Jun;170(6):1502-9. [Content Brief]

[3]. Claire Guissart, et al. Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Hum Mol Genet. 2015 Jan 15;24(2):463-70. [Content Brief]

[4]. Clotilde Lagier-Tourenne, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet. 2008 Mar;82(3):661-72. [Content Brief]

[5]. Dario Brunetti, et al. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Mol Med. 2016 Mar 1;8(3):176-90. [Content Brief]

[6]. Eunju Seong, et al. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol. 2018 Jun;83(6):1075-1088. [Content Brief]

[7]. Fernando Gómez-Herreros, et al. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nat Genet. 2014 May;46(5):516-21. [Content Brief]

[8]. François Gros-Louis, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007 Jan;39(1):80-5. [Content Brief]

[9]. Hiroshi Doi, et al. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet. 2011 Aug 12;89(2):320-7. [Content Brief]

[10]. Ilse Eidhof, et al. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain. 2018 Sep 1;141(9):2592-2604. [Content Brief]

[11]. Jack J Collier, et al. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. N Engl J Med. 2021 Jun 24;384(25):2406-2417. [Content Brief]

[12]. Karine Choquet, et al. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain. 2016 Mar;139(Pt 3):e19. [Content Brief]

[13]. L Benjamin Hills, et al. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013 Oct 15;81(16):1378-86. [Content Brief]

[14]. Leslie E Sanderson, et al. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 2021 Apr 12;144(3):769-780. [Content Brief]

[15]. M Anheim, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics. 2010 Feb;11(1):1-12. [Content Brief]

[16]. Maria-Céu Moreira, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet. 2004 Mar;36(3):225-7. [Content Brief]

[17]. Martial Mallaret, et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014 Feb;137(Pt 2):411-9. [Content Brief]

[18]. Mirna Assoum, et al. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain. 2010 Aug;133(Pt 8):2439-47. [Content Brief]

[19]. Naiara Akizu, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet. 2015 May;47(5):528-34. [Content Brief]

[20]. Nicolas C Hoch, et al. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. 2017 Jan 5;541(7635):87-91. [Content Brief]

[21]. Ranhui Duan, et al. UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. PLoS One. 2016 Feb 12;11(2):e0149039. [Content Brief]

[22]. Ryuki Hirano, et al. Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?. EMBO J. 2007 Nov 14;26(22):4732-43. [Content Brief]

[23]. Sascha Vermeer, et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet. 2010 Dec 10;87(6):813-9. [Content Brief]

[24]. Simon Edvardson, et al. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics. 2016 Oct;17(4):219-225. [Content Brief]

[25]. Stefano Lise, et al. Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. PLoS Genet. 2012;8(12):e1003074. [Content Brief]

[26]. Toshitaka Kawarai, et al. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):656-62. [Content Brief]

[27]. Velina Guergueltcheva, et al. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Am J Hum Genet. 2012 Sep 7;91(3):553-64. [Content Brief]

[28]. Wolfgang M Schmidt, et al. Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration. EMBO Rep. 2007 Jul;8(7):691-7. [Content Brief]

[29]. Yu Sun, et al. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5):706-13. [Content Brief]

[30]. Yujiro Higuchi, et al. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018 Jun 1;141(6):1622-1636. [Content Brief]

[31]. Yuting Shi, et al. Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One. 2013 Dec 2;8(12):e81884. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.