[Adult leukoencephalopathy caused by alpha-mannosidosis deficiency].
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.
Castelnovo
G
G
Service de Neurologie, CHU, Nîmes, France. giovanni.castelnovo@chu-nimes.fr
Levade
T
T
Riise Stensland
H M F
HM
Nonnon
M J
MJ
Berges
M A
MA
Tollersrud
O K
OK
Labauge
P
P
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*