Clinical geneticsHumansSiblingsSpastic ParaplegiaHereditaryMale
Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.
Gulsah Sebnem Ozkose, Yasemin Topcu, Beril Ay, Ozkan Ozdemir, Ozlem Akgun-Dogan, Ozden Hatirnaz Ng, Yasemin Alanay
Published: 202610.1111/cge.70006
Abstract
Hereditary spastic paraplegia type 62 (SPG62) is a neurodegenerative disorder, with more than 20 individuals reported to date. This ultra-rare entity is inherited in an autosomal recessive manner and has been associated with ERLIN1 variants. In addit…
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