Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Valter Niemelä, Ammar Salih, Daniela Solea, Björn Lindvall, Jan Weinberg, Gabriel Miltenberger, Tobias Granberg, Aikaterini Tzovla, Love Nordin, Torsten Danfors, Irina Savitcheva, Niklas Dahl & Martin Paucar
Objective: To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. Methods: Clinical assessments, targeted genetic studies, neuroimaging with MRI,18F-fluorodeoxyglucose (FDG) PET and dopamine transporter with [123I] FP-CIT (DaTscan) SPECT. One patient underwent Magnetic Resonance Spectroscopy (MRS). Results: Four patients living in Sweden but with different ethnical backgrounds were included. Their clinical features were variable. Biallelic VPS13A mutations were confirmed in all patients, including three novel mutations. All tested patients...
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