title: [Adult leukoencephalopathy caused by alpha-mannosidosis deficiency].
abstract: Adult leukoencephalopathy caused by alpha-mannosidosis deficiency (MIM248500) is a recessive inherited lysosomal storage disease associated with decreased activity of alpha-mannosidase. This enzyme degrades oligosaccharides and glycoproteins in neural and visceral tissues. There are two different disease phenotypes, type-I or severe infantile phenotype and type 2, which progresses more slowly and is compatible with survival into adulthood. We report the case of a 51-year-old man with gait disorders beginning at the age of 40 years associated with leukoencephalopathy due to alpha-mannosidosis deficiency.
authors.affiliation: Service de Neurologie, CHU, Nîmes, France. giovanni.castelnovo@chu-nimes.fr
authors.forename: G
authors.initials: G
authors.lastname: Castelnovo
authors.forename: T
authors.initials: T
authors.lastname: Levade
authors.forename: H M F
authors.initials: HM
authors.lastname: Riise Stensland
authors.forename: M J
authors.initials: MJ
authors.lastname: Nonnon
authors.forename: M A
authors.initials: MA
authors.lastname: Berges
authors.forename: O K
authors.initials: OK
authors.lastname: Tollersrud
authors.forename: P
authors.initials: P
authors.lastname: Labauge
mesh_terms: D001921:Brain / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000209:etiology*; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008363:alpha-Mannosidosis / Q000175:diagnosis*