Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN)
Description
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.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A03 Ataxic disorders
H01891 Autosomal recessive spinocerebellar ataxias
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06504 Base excision repair
H01891 Autosomal recessive spinocerebellar ataxias
Signal transduction
nt06528 Calcium signaling
H01891 Autosomal recessive spinocerebellar ataxias
Cellular process
nt06532 Autophagy
H01891 Autosomal recessive spinocerebellar ataxias
See also H00063 Spinocerebellar ataxia, H00067 Friedreich ataxia, and H00848 Ataxia with ocular apraxia.
SCAR19 is known as Lichtenstein-Knorr syndrome, and associates sensorineural hearing loss.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Title
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.
Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M
Title
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Bruggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Munchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M
Title
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ
Title
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).
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N
Title
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N
Title
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M
Title
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Nemeth AH
Title
Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development.
Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, Wang G, Xia K, Zhang Z, Tang B
Title
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsasser M, Pinkert S, Schlesner M, Bartram CR, Moog U
Title
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH
Title
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Schmidt WM, Kraus C, Hoger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Muller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE
Title
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kuhn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N
Title
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschutz A, Schols L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Zuchner S, Synofzik M
Title
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H
Title
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
