Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.

Movement Disorders : Official Journal of the Movement Disorder Society
Alessandro BrussinoAlfredo Brusco

Abstract

SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.

References

Feb 15, 2001·Neurology·P F Worth, N W Wood
Nov 16, 2001·Archives of Neurology·J A CholfinD H Geschwind
Nov 24, 2001·Brain Research Bulletin·S E HolmesR L Margolis
Mar 13, 2002·Neurology·B P C van de WarrenburgH P H Kremer
Feb 18, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·K K SinhaK P Bhatia
May 4, 2004·Annals of Neurology·Kate CraigPatrick F Chinnery
May 18, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·Y HellenbroichC Zühlke
Jun 28, 2005·Journal of the Neurological Sciences·Hong JiangFang Cai
Sep 6, 2005·Annals of Human Genetics·S BahlM Mukerji
May 1, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Paolo MartinelliRaffaele Lodi

❮ Previous
Next ❯

Citations

Apr 25, 2012·Current Neurology and Neuroscience Reports·Anna Sailer, Henry Houlden
May 31, 2011·Orphanet Journal of Rare Diseases·Nathaniel Robb WhaleyZbigniew K Wszolek
Sep 5, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Elizabeth E O'HearnRussell L Margolis
Feb 23, 2012·Journal of the Neurological Sciences·Yi OuyangLiying Yuan
Jan 15, 2015·Journal of the Neurological Sciences·Tao HuHuifang Shang
Jun 2, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Elisabetta GroppoMariachiara Sensi
Jun 14, 2019·Neurogenetics·Jessica RossiStefano Meletti
Oct 27, 2018·Movement Disorders Clinical Practice·Supriyo ChoudhuryHrishikesh Kumar
Jul 16, 2020·The Cerebellum·Elan D Louis, Phyllis L Faust
Nov 3, 2016·Current Opinion in Neurology·Rachael L Cohen, Russell L Margolis
Jun 29, 2016·Journal of Genetics·Waseem Gul LoneQurratulain Hasan
Nov 20, 2016·Brain : a Journal of Neurology·Achal K SrivastavaMohammed Faruq

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.