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Spinocerebellar ataxia 28
SCA28

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cerebellar atrophy nervous 100 % 24814845 2014-07-25
Ataxia nervous 100 % 21595125 2014-07-25
Hypometric saccades nervous 94 % 24814845 2014-07-25
Ataxia nervous 89 % 24814845 2014-07-25
Dysarthria nervous 83 % 24814845 2014-07-25
Nystagmus nervous 78 % 24814845 2014-07-25
Hyperactive reflexes nervous 76 % 21595125 2014-07-25
Ptosis nervous 63 % 24814845 2014-07-25
Ophthalmoplegia nervous 61 % 24814845 2014-07-25
Nystagmus nervous 49 % 21595125 2014-07-25
Ptosis nervous 48 % 21595125 2014-07-25
Pallesthesia nervous 45 % 21595125 2014-07-25
Hyperactive reflexes nervous 44 % 24814845 2014-07-25
Babinski's sign nervous 27 % 21595125 2014-07-25
Extrapyramidal symptoms nervous 24 % 21595125 2014-07-25
Muscle weakness skeletal 22 % 24814845 2014-07-25
Cognitive deficits nervous 19 % 21595125 2014-07-25
Spasticity nervous 17 % 24814845 2014-07-25
Babinski's sign nervous 17 % 24814845 2014-07-25
Seizures nervous 11 % 24814845 2014-07-25
Muscle atrophy skeletal 11 % 24814845 2014-07-25



List of references:


Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Katrien Smets, Tine Deconinck, Jonathan Baets, Anne Sieben, Jean-Jacques Martin, Iris Smouts, Shuaiyu Wang, Franco Taroni, Daniela Di Bella, Wim Van Hecke, Paul M Parizel, Christina Jadoul, Robert De Potter, Francine Couvreur, Elena Rugarli, Peter De Jonghe,

To identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (SCA28) with ptosis in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain autopsy, advanced MRI, and cell-based functional assays exploring the underlying disease mechanism.

Neurology - Jun 2014








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