title: Neurological and brain MRS findings in patients with Gaucher disease type 1.
abstract: Gaucher disease type 1 (GD1) is an autosomal recessive lysosomal storage disorder, characterised by accumulation of glycosphingolipids in visceral organs. Although considered non-neuronopathic neurological involvement has been reported in single cases. The aim of our study was to investigate central and peripheral nervous system involvement in patients with GD1. We investigated nine unrelated patients with GD1 by three-dimensional cerebral 1H-magnetic resonance spectroscopic imaging and clinical and neurophysiological tests. We found an increased choline level on MRS in four patients. One of these patients had mixed axonal neuropathy and subclinical involvement of the central somatosensory tract as well as monoclonal gammopathy. One patient with normal cerebral choline levels had evidence of bilateral carpal tunnel syndrome upon neurophysiological exam. The N370S mutation was found in 11 out of 18 alleles. Three patients were compound heterozygous for the L444P mutation. There was no correlation between increased cerebral choline levels and type of mutations. MRS findings suggest that in patients with classical non-neuronopathic GD1, the brain is involved at a subclinical level in some patients.
authors.affiliation: Department of Pediatrics, Medical University Vienna, Austria.
authors.forename: Saadet
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
authors.forename: Stephan
authors.initials: S
authors.lastname: Gruber
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Andreas
authors.initials: A
authors.lastname: Stadlbauer
authors.forename: Christian
authors.initials: C
authors.lastname: Woeber
authors.forename: Peter
authors.initials: P
authors.lastname: Kurnik
authors.forename: Till
authors.initials: T
authors.lastname: Voigtlaender
authors.forename: Ewald
authors.initials: E
authors.lastname: Moser
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stoeckler-Ipsiroglu
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D001931:Brain Mapping; D002794:Choline / Q000378:metabolism; D004594:Electrophysiology; D005260:Female; D005776:Gaucher Disease / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D017933:Peripheral Nervous System / Q000473:pathology*
chemical_list: D002794:Choline