Ataxia Support

Highlights from "Parkinsonism in Spinocerebellar Ataxia"

Now I understand better why not everyone diagnosed with ataxia can benefit from the drugs that have helped me so much I am sorry for thinking that there was such a good chance that everyone could try and see how sinemet (carbolevadopa) works for them.

Parkinsonism in Spinocerebellar Ataxia
Spinocerebellar ataxia (SCA) is a progressive, autosomal dominant neurodegenerative disorder which affects the cerebellum and its connected structures. Even though ataxia is a main feature in most cases, clinically there are various phenotypes even in the same SCA subtype which shows numerous clinical features related to the brainstem and spinal cord with or without ataxia. Many extrapyramidal symptoms including parkinsonism are also seen in diverse SCA subtypes.

SCA3 is the most common SCA worldwide with geographic differences and has been regarded as one of the genetic causes of familial parkinsonism.
In the literature, SCA3 or Machado-Joseph disease (MJD) was the first genetically confirmed SCA subtype in a patient with the levodopa-responsive Parkinson disease (PD) like phenotype, although the symptoms of this patient did not exactly resemble idiopathic PD. Since then, many SCA subtypes, such as SCA2, SCA6, SCA8, and SCA17, have been described as both levodopa-responsive PD and atypical parkinsonism.

Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence. SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldwide. Parkinsonism in SCA2 has unique genetic characteristics, such as low number of expansions and interrupted structures, which may explain the sporadic cases with low penetrance. Parkinsonism in SCA17 is more remarkable in Asian populations especially in Korea. In addition, an unclear cutoff of the pathologic range is the key issue in SCA17 related parkinsonism. SCA3 is more common in western cohorts. SCA6 and SCA8 have also been reported with a PD-like phenotype.
Parkinsonism in Spinocerebellar Ataxia
BioMed Research International
Volume 2015 (2015), Article ID 125273, 11 pages
Review Article
Hyeyoung Park, Han-Joon Kim, and Beom S. Jeon
Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University Hospital, Seoul National University, Seoul 110-744, Republic of KoreaReceived 15 July 2014; Revised 29 September 2014; Accepted 13 October 2014;Academic Editor: Engking Tan
Copyright © 2015 Hyeyoung Park et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the originally cited.