Neurochemical abnormalities in premanifest and early spinocerebellar ataxias

Objective To investigate whether early neurochemical abnormalities are detectable by high‐field magnetic resonance spectroscopy (MRS) in individuals with spinocerebellar ataxias (SCAs) 1, 2, 3, and 6, including patients without manifestation of ataxia. Methods A cohort of 100 subjects (N = 18–21 in...

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Veröffentlicht in:	Annals of neurology 2018-04, Vol.83 (4), p.816-829
Hauptverfasser:	Joers, James M., Deelchand, Dinesh K., Lyu, Tianmeng, Emir, Uzay E., Hutter, Diane, Gomez, Christopher M., Bushara, Khalaf O., Eberly, Lynn E., Öz, Gülin
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Activities of Daily Living Adult Aged Aspartic Acid - analogs & derivatives Aspartic Acid - metabolism Ataxia Ataxin Ataxins - genetics Brain - diagnostic imaging Brain - metabolism Brain Diseases, Metabolic - diagnostic imaging Brain Diseases, Metabolic - etiology Brain stem Case-Control Studies Cerebellum Clinical trials Cohort Studies Cross-Sectional Studies Disease Progression Female gamma-Aminobutyric Acid - metabolism Genotypes Glutamic Acid - metabolism Humans Inositol - metabolism Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Middle Aged Mutation Neuronal-glial interactions Spinocerebellar ataxia Spinocerebellar Ataxias - diagnostic imaging Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - pathology Synaptic density Young Adult
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Beschreibung
Zusammenfassung:	Objective To investigate whether early neurochemical abnormalities are detectable by high‐field magnetic resonance spectroscopy (MRS) in individuals with spinocerebellar ataxias (SCAs) 1, 2, 3, and 6, including patients without manifestation of ataxia. Methods A cohort of 100 subjects (N = 18–21 in each SCA group, including premanifest mutation carriers; mean score on the Scale for the Assessment and Rating of Ataxia [SARA]
ISSN:	0364-5134 1531-8249
DOI:	10.1002/ana.25212