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Article

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.

Clinical genetics - 1 Jan 2026

Ozkose Gulsah Sebnem, Topcu Yasemin, Ay Beril, Ozdemir Ozkan, Akgun-Dogan Ozlem, Ng Ozden Hatirnaz, Alanay Yasemin

Abstract excerpt

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 addition, ERLIN1-related biallelic variants have been linked to early-onset amyotrophic lateral sclerosis (ALS). We present two siblings with slowly progressive spastic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41251124
DOI: 10.1111/cge.70006

Genes

ERLIN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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