Spinocerebellar ataxia 4
SCAR4

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Prevalence (%) of clinical parameters based on data from 1 references describing 7 individuals







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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
Hyperactive reflexes nervous 86 % 29604224 2020-01-13
Muscle atrophy nervous 86 % 29604224 2020-01-13
Ataxia nervous 71 % 29604224 2020-01-13
Babinski's sign nervous 71 % 29604224 2020-01-13
Dysarthria nervous 67 % 29604224 2020-01-13
Developmental delay nervous 57 % 29604224 2020-01-13
Spasticity nervous 50 % 29604224 2020-01-13
Cerebellar atrophy nervous 43 % 29604224 2020-01-13
Cognitive deficits nervous 29 % 29604224 2020-01-13
Areflexia nervous 14 % 29604224 2020-01-13
Seizures nervous 14 % 29604224 2020-01-13
Dystonia nervous 14 % 29604224 2020-01-13
Myoclonus nervous 14 % 29604224 2020-01-13



List of references:


Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z Li, Tamison Jewett, Anneke J A Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine A Collins, Katja Lohmann, Bart P van de Warrenburg, Margit Burmeister,



Annals of neurology - 06 2018