Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

doi:10.1007/s00415-020-10348-x

Article

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Journal of neurology - 1 May 2021

Ravel Jean-Marie, Benkirane Mehdi, Calmels Nadège, Marelli Cecilia, Ory-Magne Fabienne, Ewenczyk Claire, Halleb Yosra, Tison François, Lecocq Claire, Pische Guillaume, Casenave Philippe, Chaussenot Annabelle, Frismand Solène, Tyvaert Louise, Larrieu Lise, Pointaux Morgane, Drouot Nathalie, Bossenmeyer-Pourié Carine, Oussalah Abderrahim, Guéant Jean-Louis, Leheup Bruno, Bonnet Céline, Anheim Mathieu, Tranchant Christine, Lambert Laëtitia, Chelly Jamel, Koenig Michel, Renaud Mathilde

Abstract excerpt

BACKGROUND: STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now considered a frequent cause of cerebellar ataxia. OBJECTIVE: We aimed to improve the clinical, radiological, and molecular delineation of SCAR16 and SCA48. METHODS: Retrospective collection of patients with SCAR16 or SCA48...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ataxia

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Abstract excerpt

Topics

Related research