Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Age of Onset
-
Ataxia / diagnosis
-
Ataxia / genetics
-
Ataxia / physiopathology
-
Atrophy / diagnosis
-
Atrophy / genetics
-
Atrophy / physiopathology
-
Basal Ganglia Diseases / diagnosis
-
Basal Ganglia Diseases / genetics*
-
Basal Ganglia Diseases / physiopathology
-
Cerebellum / metabolism
-
Cerebellum / pathology
-
Cerebellum / physiopathology
-
Cerebral Cortex / metabolism
-
Cerebral Cortex / pathology
-
Cerebral Cortex / physiopathology
-
Cognition Disorders / diagnosis
-
Cognition Disorders / genetics
-
Cognition Disorders / physiopathology
-
DNA Mutational Analysis
-
Female
-
Ferritins / genetics*
-
Genetic Testing
-
Globus Pallidus / metabolism
-
Globus Pallidus / pathology*
-
Globus Pallidus / physiopathology*
-
Humans
-
Iron Metabolism Disorders / diagnosis
-
Iron Metabolism Disorders / genetics*
-
Iron Metabolism Disorders / physiopathology
-
Magnetic Resonance Imaging
-
Male
-
Middle Aged
-
Mutation, Missense / genetics
-
Neurocognitive Disorders / diagnosis
-
Neurocognitive Disorders / genetics
-
Neurocognitive Disorders / physiopathology
-
Neurodegenerative Diseases / diagnosis
-
Neurodegenerative Diseases / genetics*
-
Neurodegenerative Diseases / physiopathology
-
Parkinsonian Disorders / diagnosis
-
Parkinsonian Disorders / genetics
-
Parkinsonian Disorders / physiopathology
-
Pedigree