Non-progressive congenital ataxia (NPCA) is a non-progressive form of cerebellar ataxia which can occur with or without cerebellar hypoplasia.
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Transcription
Cause
NPCA is a syndrome and can have diverse causes. It has a genetic basis and inheritance is considered to be autosomal recessive.[1] However, autosomal dominant variety has also been reported.[2] There may be familial balanced translocation t(8;20)(p22;q13) involved.[3]
Diagnosis
Neuroimaging like MRI is important. However, there was considerable intrafamilial variability regarding neuroimaging, with some individuals showing normal MRI findings.[4] Early individual prognosis of such autosomal recessive cerebellar ataxias is not possible from early developmental milestones, neurological signs, or neuroimaging.[5]
Management
References
- ^ Yapici, Z; Eraksoy, M (February 2005). "Non-progressive congenital ataxia with cerebellar hypoplasia in three families". Acta Paediatrica. 94 (2): 248–53. doi:10.1080/08035250410022413. PMID 15981765.
- ^ Dudding, TE; Friend, K; Schofield, PW; Lee, S; Wilkinson, IA; Richards, RI (28 December 2004). "Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus". Neurology. 63 (12): 2288–92. doi:10.1212/01.WNL.0000147299.80872.D1. PMID 15623688. S2CID 25344825.
- ^ Hertz, JM; Sivertsen, B; Silahtaroglu, A; Bugge, M; Kalscheuer, V; Weber, A; Wirth, J; Ropers, HH; Tommerup, N; Tümer, Z (March 2004). "Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)". Journal of Medical Genetics. 41 (3): e25. doi:10.1136/jmg.2003.011510. PMC 1735697. PMID 14985396.
- ^ Harvey B. Sarnat; Paolo Curatolo (26 September 2007). Malformations of the Nervous System. Newnes. p. 122. ISBN 978-0-08-055984-1.
- ^ Steinlin, Maja; Zangger, B; Boltshauser, E (12 November 2008). "Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects". Developmental Medicine & Child Neurology. 40 (3): 148–154. doi:10.1111/j.1469-8749.1998.tb15438.x. PMID 9566649.
This page was last edited on 29 January 2021, at 21:55