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Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Authors :
Niemelä, Valter
Salih, Ammar
Solea, Daniela
Lindvall, Bjoern
Weinberg, Jan
Miltenberger, Gabriel
Granberg, Tobias
Tzovla, Aikaterini
Nordin, Love
Danfors, Torsten
Savitcheva, Irina
Dahl, Niklas
Paucar, Martin
Niemelä, Valter
Salih, Ammar
Solea, Daniela
Lindvall, Bjoern
Weinberg, Jan
Miltenberger, Gabriel
Granberg, Tobias
Tzovla, Aikaterini
Nordin, Love
Danfors, Torsten
Savitcheva, Irina
Dahl, Niklas
Paucar, Martin
Publication Year :
2020

Abstract

ObjectiveTo perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden.MethodsClinical assessments, targeted genetic studies, neuroimaging with MRI, [F-18]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with I-123 FP-CIT (DaTscan) SPECT. One patient underwent magnetic resonance spectroscopy (MRS).ResultsFour 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.ConclusionsLarger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc.

Details

Database :
OAIster
Notes :
application/pdf, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1234165120
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1212.NXG.0000000000000426