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Springer Nature1
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Molecular Biology Reports1
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20251
Filza Sayyad results 1 · Newest (Page 1/1, per page 25)
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Author: Filza Sayyad ×Clear All Filters
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Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1)NARA Subscribed
Molecular Biology Reports · 2025 · Vol. 52 · Issue 1 · Springer
Riaz Ahmad; Filza Sayyad; Muhammad Naeem; Henry Houlden
Background Spinocerebellar ataxia with axonal neuropathy type 1 (OMIM: 607250) is an extremely rare autosomal recessive disorder caused by a mutation in the tyrosyl-DNA phosphodiesterase 1 ( TDP1) gene. Only a single missense variant (p.His493Arg) in this gene has been reported. This variant was found in three Arab families with a possible common founder effect. Methods and Results We report a female patient born to a consangu...
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