PT  - JOURNAL ARTICLE
AU  - Valter Niemelä
AU  - Ammar Salih
AU  - Daniela Solea
AU  - Björn Lindvall
AU  - Jan Weinberg
AU  - Gabriel Miltenberger
AU  - Tobias Granberg
AU  - Aikaterini Tzovla
AU  - Love Nordin
AU  - Torsten Danfors
AU  - Irina Savitcheva
AU  - Niklas Dahl
AU  - Martin Paucar
TI  - Phenotypic variability in chorea-acanthocytosis associated with novel <em>VPS13A</em> mutations
AID  - 10.1212/NXG.0000000000000426
DP  - 2020 Jun 01
TA  - Neurology Genetics
PG  - e426
VI  - 6
IP  - 3
4099  - http://ng.neurology.org/content/6/3/e426.short
4100  - http://ng.neurology.org/content/6/3/e426.full
SO  - Neurol Genet2020 Jun 01; 6
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