RT Journal Article SR Electronic T1 Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations JF Neurology Genetics JO Neurol Genet FD Lippincott Williams & Wilkins SP e426 DO 10.1212/NXG.0000000000000426 VO 6 IS 3 A1 Valter Niemelä A1 Ammar Salih A1 Daniela Solea A1 Björn Lindvall A1 Jan Weinberg A1 Gabriel Miltenberger A1 Tobias Granberg A1 Aikaterini Tzovla A1 Love Nordin A1 Torsten Danfors A1 Irina Savitcheva A1 Niklas Dahl A1 Martin Paucar YR 2020 UL http://ng.neurology.org/content/6/3/e426.abstract AB 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 3 novel mutations. All tested patients had either low or absent chorein levels. One patient had progressive caudate atrophy. Investigation using FDG-PET revealed severe bilateral striatal hypometabolism, and DaTscan SPECT displayed presynaptic dopaminergic deficiency in 3 patients. MRS demonstrated reduced N-acetylaspartate/creatine (Cr) ratio and mild elevation of both choline/Cr and combined glutamate and glutamine/Cr in the striatum in 1 case. One patient died during sleep, and another was treated with deep brain stimulation, which transiently attenuated feeding dystonia but not his gait disorder or chorea.Conclusions Larger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc.BG=basal ganglia; CC/IT=intercaudate distance to inner table width ratio; ChAc=chorea-acanthocytosis; Cho=choline; Cr=creatine; DBS=deep brain stimulation; FDG=fluorodeoxyglucose; FH/CC=frontal horn width to intercaudate distance ratio; Glx=glutamine; HD=Huntington disease; MLS=McLeod syndrome; MRS=magnetic resonance spectroscopy; NAA=N-acetylaspartate