Non-progressive congenital ataxia | |
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Specialty | Neurology |
Non-progressive congenital ataxia (NPCA) is a non-progressive form of cerebellar ataxia which can occur with or without cerebellar hypoplasia.
Cause
NPCA is a syndrome and can have diverse causes. It has a genetic basis and inheritance is considered to be autosomal recessive. However, autosomal dominant variety has also been reported. There may be familial balanced translocation t(8;20)(p22;q13) involved.
Diagnosis
Neuroimaging like MRI is important. However, there was considerable intrafamilial variability regarding neuroimaging, with some individuals showing normal MRI findings. Early individual prognosis of such autosomal recessive cerebellar ataxias is not possible from early developmental milestones, neurological signs, or neuroimaging.
Management
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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.
Signs and symptoms relating to movement and gait | |
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Gait |
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Coordination | |
Abnormal movement | |
Posturing |
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Paralysis | |
Weakness | |
Range of motion | |
Other |
Signs and symptoms, and syndromes associated with lesions of the brain and brainstem | |||||||||
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Cerebral cortex |
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Subcortex |
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Cerebellum |
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Brainstem |
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Other |