Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

Maciel, P

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. [electronic resource] - Neurology Aug 2005 - 603-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000178224.81169.c2 doi


Adult
Age of Onset
Ataxia--diagnosis
Atrophy--diagnosis
Basal Ganglia Diseases--diagnosis
Cerebellum--metabolism
Cerebral Cortex--metabolism
Cognition Disorders--diagnosis
DNA Mutational Analysis
Female
Ferritins--genetics
Genetic Testing
Globus Pallidus--metabolism
Humans
Iron Metabolism Disorders--diagnosis
Magnetic Resonance Imaging
Male
Middle Aged
Mutation, Missense--genetics
Neurocognitive Disorders--diagnosis
Neurodegenerative Diseases--diagnosis
Parkinsonian Disorders--diagnosis
Pedigree