Spinocerebellar Ataxia with Axonal Neuropathy
SCAN1

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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
Ataxia nervous 100 % 12244316 2011-10-19
Nephropathy nervous 100 % 12244316 2011-10-02
Hypercholesterolemia digestive 100 % 12244316 2011-10-02
Hypoalbuminemia digestive 100 % 12244316 2011-10-02
Neuropathy nervous 100 % 12244316 2011-10-26
Cerebellar atrophy nervous 67 % 12244316 2011-10-26
Seizures nervous 33 % 12244316 2011-10-02
Demyelination nervous 33 % 12244316 2011-10-02



List of references:


Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Hiroshi Takashima, Cornelius F Boerkoel, Joy John, Gulam Mustafa Saifi, Mustafa A M Salih, Dawna Armstrong, Yuxin Mao, Florante A Quiocho, Benjamin B Roa, Masanori Nakagawa, David W Stockton, James R Lupski,



Nature genetics - Oct 2002