The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during SCA disease progression.
Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldo M, Arvidsson A, Persson S, Englund E, Ehrencrona H, Puschmann A
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Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.
David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A
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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL
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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Kusters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS
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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buee L, Destee A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Durr A, Sablonniere B
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noel L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rotig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A
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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F
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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H
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Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P
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Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A
Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G
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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschke P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS
Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Genis D, Ortega-Cubero S, San Nicolas H, Corral J, Gardenyes J, de Jorge L, Lopez E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obon M, Beltran B, Fabregas L, Alemany B, Marquez F, Ramio-Torrenta L, Gich J, Volpini V, Pastor P
Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Pineiro A, Mateo-Montero RC, Ispierto L, Vilas D, Tolosa E, Volpini V, Alvarez-Ramo R, Sanchez I, Matilla-Duenas A
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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Lariviere R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Numann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Tregouet DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H
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CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
