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Niemelä V, Salih A, Solea D, Lindvall B, Weinberg J, Miltenberger G, Granberg T, Tzovla A, Nordin L, Danfors T, Savitcheva I, Dahl N, Paucar M
Neurol Genet 6 (3) e426 [2020-06-00; online 2020-04-27]
To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. 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). 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. Larger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc.
PubMed 32494755
DOI 10.1212/NXG.0000000000000426
Crossref 10.1212/NXG.0000000000000426
pmc: PMC7217656
pii: NG2019012112
Dryad: 10.5061/dryad.7h44j0zr9