Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum.
Maciel
P
P
Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Campus de Gualtar, 4710-057 Braga, Portugal. pmaciel@ecsaude.uminho.pt
Cruz
V T
VT
Constante
M
M
Iniesta
I
I
Costa
M C
MC
Gallati
S
S
Sousa
N
N
Sequeiros
J
J
Coutinho
P
P
Santos
M M
MM
D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D001284:Atrophy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002540:Cerebral Cortex / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000235:genetics*; D005820:Genetic Testing; D005917:Globus Pallidus / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D019965:Neurocognitive Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree
D005293:Ferritins