Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

doi:10.1212/WNL.0000000000005869

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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

Neurology - 24 Jul 2018

Muto Valentina, Flex Elisabetta, Kupchinsky Zachary, Primiano Guido, Galehdari Hamid, Dehghani Mohammadreza, Cecchetti Serena, Carpentieri Giovanna, Rizza Teresa, Mazaheri Neda, Sedaghat Alireza, Vahidi Mehrjardi Mohammad Yahya, Traversa Alice, Di Nottia Michela, Kousi Maria M, Jamshidi Yalda, Ciolfi Andrea, Caputo Viviana, Malamiri Reza Azizi, Pantaleoni Francesca, Martinelli Simone, Jeffries Aaron R, Zeighami Jawaher, Sherafat Amir, Di Giuda Daniela, Shariati Gholam Reza, Carrozzo Rosalba, Katsanis Nicholas, Maroofian Reza, Servidei Serenella, Tartaglia Marco

Abstract excerpt

OBJECTIVE: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. METHODS: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES...

Topics

Adolescent
Adult
Age of Onset
Alleles
Animals
Disease Progression
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Neurodegenerative Diseases

Pedigree

Sequestosome-1 Protein

Exome Sequencing

Young Adult

Zebrafish

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Identifiers

PMID: 29959261
DOI: 10.1212/WNL.0000000000005869
PMCID: PMC6070386

Genes

SQSTM1

Variants

Provenance

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