| References |
|
|
Baba Y,
Uitti RJ,
Farrer MJ et al.
(2006)
Atypical Parkinsonism and SCA8.
Parkinsonism and Related disorders
12(6):
396.
|
|
|
Bakalkin G,
Watanabe H,
Jezierska J et al.
(2010)
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
American Journal of Human Genetics
87(5):
593–603.
|
|
|
Bauer P,
Stevanin G,
Beetz C et al.
(2010)
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Journal of neurology, neurosurgery, and psychiatry
81(11):
1229–1232.
|
|
|
Brkanac Z,
Spencer D,
Shendure J et al.
(2009)
IFRD1 is a candidate gene for SMNA on chromosome 7q22–q23.
American Journal Human Genetics
84(5):
692–697.
|
|
|
Cader MZ,
Steckley JL,
Dyment DA et al.
(2005)
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
Neurology
65(1):
156–158.
|
|
|
Cagnoli C,
Stevanin G,
Brussino A et al.
(2010)
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias.
Human Mutation
31(10):
1117–1124.
|
|
|
Chan E,
Charles P,
Ribai P et al.
(2011)
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Movement Disorders
26(3):
534–538.
|
|
|
Chen DH,
Brkanac Z,
Verlinde CL et al.
(2003)
Missense mutations in the regulatory domain of PKCgamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
American Journal Human Genetics
72(4):
839–849.
|
|
|
Corral J,
Genis D,
Banchs I et al.
(2005)
Giant SCA8 alleles in nine children whose mother has two moderately large ones.
Annals of Neurology
57(4):
549–553.
|
|
|
Dalski A,
Atici J,
Kreuz FR et al.
(2005)
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
European Journal of Human Genetics
13(1):
118–120.
|
|
|
Delplanque J,
Devos D,
Vuillaume I et al.
(2008)
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21).
Cerebellum
7(2):
179–183.
|
|
|
Di Bella D,
Lazzaro F,
Brusco A et al.
(2010)
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Nature Genetics
42(4):
313–321.
|
|
|
Dudding TE,
Friend K,
Schofield PW et al.
(2004)
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus.
Neurology
63(12):
2288–2292.
|
|
|
Edener U,
Wollner J,
Hehr U et al.
(2010)
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
European Journal Human Genetics
18(8):
965–968.
|
|
|
Escayg A,
De Waard M,
Lee DD et al.
(2000)
Coding and noncoding variation of the human calcium-channel beta4- subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
American Journal Human Genetics
66(5):
1531–1539.
|
|
|
Eunson LH,
Rea R,
Zuberi SM et al.
(2000)
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
Annals of Neurology
48(4):
647–656.
|
|
|
Figueroa KP,
Waters MF,
Garibyan V et al.
(2011)
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
PloS one
6(3):
e17811.
|
|
|
Fujigasaki H,
Verma IC,
Camuzat A et al.
(2001)
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.
Annals of Neurology
49(1):
117–121.
|
|
|
Gamez J,
Sierra-Marcos A,
Gratacos M et al.
(2010)
Camptocormia associated with an expanded allele in the TATA box-binding protein gene.
Movement Disorders
25(9):
1293–1295.
|
|
|
Genis D,
Ferrer I,
Sole JV et al.
(2009)
A kindred with cerebellar ataxia and thermoanalgesia.
Journal of Neurology, Neurosurgery and Psychiatry
80(5):
518–523.
|
|
|
Goldfarb LG,
Vasconcelos O,
Platonov FA et al.
(1996)
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.
Annals of Neurology
39(4):
500–506.
|
|
|
Hellenbroich Y,
Schulz-Schaeffer W,
Nitschke MF et al.
(2004)
Coincidence of a large SCA12 repeat allele with a case of Creutzfeld–Jacob disease.
Journal of Neurology, Neurosurgery and Psychiatry
75(6):
937–938.
|
|
|
Higgins JJ,
Pho LT,
Ide SE et al.
(1997)
Evidence for a new spinocerebellar ataxia locus.
Movement Disorders
12(3):
412–417.
|
|
|
Houlden H,
Johnson J,
Gardner-Thorpe C et al.
(2007)
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Nature Genetics
39(12):
1434–1436.
|
|
|
Ikeda Y,
Daughters RS and
Ranum LP
(2008)
Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.
Cerebellum
7(2):
150–158.
|
|
|
Ikeda Y,
Dick KA,
Weatherspoon MR et al.
(2006)
Spectrin mutations cause spinocerebellar ataxia type 5.
Nature Genetics
38(2):
184–190.
|
|
|
Jen JC,
Wan J,
Palos TP et al.
(2005)
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
Neurology
65(4):
529–534.
|
|
|
Kent WJ,
Sugnet CW,
Furey TS et al.
(2002)
The human genome browser at UCSC.
Genome Research
12(6):
996–1006.
|
|
|
Kerber KA,
Jen JC,
Lee H et al.
(2007)
A new episodic ataxia syndrome with linkage to chromosome 19q13.
Archives of Neurology
64(5):
749–752.
|
|
|
Knight MA,
Hernandez D,
Diede SJ et al.
(2008)
A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20.
Human Molecular Genetics
17(24):
3847–3853.
|
|
|
Kobayashi H,
Abe K,
Matsuura T et al.
(2011)
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 Causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
American Journal Human Genetics.
89:
121–130
|
|
|
Koide R,
Kobayashi S,
Shimohata T et al.
(1999)
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
Human Molecular Genetics
8(11):
2047–2053.
|
|
|
Matilla-Dueñas A,
Goold R and
Giunti P
(2006)
Molecular pathogenesis of spinocerebellar ataxias.
Brain
129(Pt6):
1357–1370.
|
|
|
Matilla-Dueñas A,
Goold R and
Giunti P
(2008)
Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.
Cerebellum
7(2):
106–114.
|
|
|
Matilla-Dueñas A,
Sanchez I,
Corral-Juan M et al.
(2010)
Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.
Cerebellum
9(2):
148–166.
|
|
|
ePath
McKusick V
(2011) Online Mendelian Inheritance in Man, OMIM (TM). Bethesda, MD: McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine. http://www.ncbi.nlm.nih.gov/omim
|
|
|
Meijer IA,
Hand CK,
Grewal KK et al.
(2002)
A locus for autosomal dominant hereditary spastic ataxia, SPAX1, maps to chromosome 12p13.
American Journal Human Genetics
70(3):
763–769.
|
|
|
Melberg A,
Hetta J,
Dahl N et al.
(1995)
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
Journal of Neurological Sciences
134(1–2):
119–129.
|
|
|
Misceo D,
Fannemel M,
Baroy T et al.
(2009)
SCA27 caused by a chromosome translocation: further delineation of the phenotype.
Neurogenetics
10(4):
371–374.
|
|
|
Munhoz RP,
Teive HA,
Raskin S et al.
(2009)
CTA/CTG expansions at the SCA 8 locus in multiple system atrophy.
Clinical Neurology and Neurosurgery
111(2):
208–210.
|
|
|
Nakamura K,
Jeong SY,
Uchihara T et al.
(2001)
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
Human Molecular Genetics
10(14):
1441–1448.
|
|
|
book
O'Hearn E,
Holmes SE and
Margolis RL
(2011)
"Spinocerebellar ataxia type 12". In:
Vinken PJ and
Bruyn GW (eds)
Handbook of Clinical Neurology, vol.
103, pp.
535–547.
Amsterdam: Elsevier.
|
|
|
Ohnari K,
Aoki M,
Uozumi T et al.
(2008)
Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion.
Journal of Neurological Sciences
273(1-2):
15–18.
|
|
|
Orr H,
Chung M-Y,
Banfi S et al.
(1993)
Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1.
Nature Genetics
4(3):
221–226.
|
|
|
book
Pagon RA,
Bird TC,
Dolan CR et al.
(1993–2011)
Gene Reviews [Internet].
Seattle: University of Washington.
|
|
|
Riant F,
Lescoat C,
Vahedi K et al.
(2010)
Identification of CACNA1A large deletions in four patients with episodic ataxia.
Neurogenetics
11(1):
101–106.
|
|
|
Sato N,
Amino T,
Kobayashi K et al.
(2009)
Spinocerebellar ataxia type 31 is associated with ‘inserted’ penta-nucleotide repeats containing (TGGAA)n.
American Journal Human Genetics
85(5):
544–557.
|
|
|
Schmitz-Hubsch T,
Coudert M,
Bauer P et al.
(2008)
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
Neurology
71(13):
982–989.
|
|
|
Schmitz-Hubsch T,
Fimmers R,
Rakowicz M et al.
(2010)
Responsiveness of different rating instruments in spinocerebellar ataxia patients.
Neurology
74(8):
678–684.
|
|
|
Schmitz-Hubsch T,
du Montcel ST,
Baliko L et al.
(2006)
Scale for the assessment and rating of ataxia: development of a new clinical scale.
Neurology
66(11):
1717–1720.
|
|
|
Sequeiros J,
Martindale J and
Seneca S
(2010a)
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
European Journal of Human Genetics
18(11):
1173–1176.
|
|
|
Sequeiros J,
Seneca S and
Martindale J
(2010b)
Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.
European Journal of Human Genetics
18(11):
1188–1195.
|
|
|
Stevanin G,
Broussolle E,
Streichenberger N et al.
(2005)
Spinocerebellar ataxia with sensory neuropathy (SCA25).
Cerebellum
4(1):
58–61.
|
|
|
Storey E,
Bahlo M,
Fahey M et al.
(2009)
A new dominantly inherited pure cerebellar ataxia, SCA 30.
Journal of Neurology, Neurosurgery and Psychiatry
80(4):
408–411.
|
|
|
Sulek A,
Hoffman-Zacharska D,
Zdzienicka E et al.
(2003)
SCA8 repeat expansion coexists with SCA1 – not only with SCA6.
American Journal Human Genetics
73(4):
972–974.
|
|
|
van Swieten JC,
Brusse E,
de Graaf BM et al.
(2003)
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia.
American Journal Human Genetics
72(1):
191–199.
|
|
|
Takahashi H,
Ishikawa K,
Tsutsumi T et al.
(2004)
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.
Journal of Human Genetics
49(5):
256–264.
|
|
|
other
Teive HA,
Munhoz RP,
Arruda WO et al.
(2011) Spinocerebellar ataxia type 10 – a review. Parkinsonism & Related Disorders. doi: 10.1016/j.parkreldis.2011.04.001.
|
|
|
Trudeau MM,
Dalton JC,
Day JW et al.
(2006)
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
Journal of Medical Genetics
43(6):
527–530.
|
|
|
Velazquez-Perez L,
Rodriguez-Labrada R,
Garcia-Rodriguez JC et al.
(2011)
A comprehensive review of spinocerebellar ataxia type 2 in Cuba.
Cerebellum
10(2):
184–198.
|
|
|
de Vries B,
Mamsa H,
Stam AH et al.
(2009)
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
Archives of Neurology
66(1):
97–101.
|
|
|
Wang JL,
Yang X,
Xia K et al.
(2010)
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Brain
133(Pt 12):
3510–3518.
|
|
|
Worth PF,
Houlden H,
Giunti P et al.
(2000)
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.
Nature Genetics
24(3):
214–215.
|
| Further Reading |
|
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van Gaalen J,
Giunti P and
van de Warrenburg BP
(2011)
Movement disorders in spinocerebellar ataxias.
Movement disorders
26(5):
792–800.
|
|
|
Manto M and
Marmolino D
(2009)
Cerebellar ataxias.
Current Opinion in Neurology
22(4):
419–429.
|
|
|
book
Matilla-Dueñas A
(2011)
"Machado–Joseph disease and other rare spinocerebellar ataxias". In:
Amad SI (ed.)
Neurodegenerative Diseases, pp.
172–188.
Austin/New York: Landes BioScience/Springer Science+Business Media.
|
|
|
book
Matilla-Dueñas A,
Corral-Juan M,
Volpini V et al.
(2011)
"The spinocerebellar ataxias: clinical aspects and molecular genetics". In:
Amad SI (ed.)
Neurodegenerative diseases, pp.
351–374.
Austin/New York: Landes BioScience/Springer Science+Business Media.
|
|
|
book
Perlman SL
(2011)
"Spinocerebellar degenerations". In:
Vinken PJ and
Bruyn GW (eds)
Handbook of Clinical Neurology, vol.
100, pp.
113–140.
Amsterdam: Elsevier.
|
|
|
Soong BW and
Paulson HL
(2007)
Spinocerebellar ataxias: an update.
Current Opinion in Neurology
20(4):
438–446.
|
|
|
Tsuji S,
Onodera O,
Goto J et al.
(2008)
Sporadic ataxias in Japan – a population-based epidemiological study.
Cerebellum
7(2):
189–197.
|
|
|
book
Zoghbi HY and
Orr HT
(2001)
"Spinocerebellar ataxias". In:
Scriver CR,
Sly WS and
Childs AL et al. (eds)
The Metabolic and Molecular Basis of Inherited Disease, pp.
5741–5758.
New York: MaGraw Professionals.
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