Alexander disease with a novel GFAP insertion-deletion mutation mimicking progressive supranuclear palsy.
Clin Neurol Neurosurg
; 240: 108261, 2024 05.
Article
en En
| MEDLINE
| ID: mdl-38599043
ABSTRACT
This report presents a case of Alexander disease showing clinical characteristics mimicking progressive supranuclear palsy (PSP). A 67-year-old woman complaining of motor disturbance exhibited severe atrophy of medulla, spinal cord, and midbrain tegmentum, as well as periventricular hyperintensity on cerebral MRI. Genetic analysis identified a novel in-frame deletion/insertion mutation in the exon 3 of the GFAP gene. Interestingly, neurological findings and decreased striatal uptake in dopamine transporter SPECT were suggestive of PSP. A novel GFAP gene mutation found in the present case may cause the unique clinical phenotype, which should be differentiated from PSP.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Parálisis Supranuclear Progresiva
/
Imagen por Resonancia Magnética
/
Enfermedad de Alexander
/
Proteína Ácida Fibrilar de la Glía
Límite:
Aged
/
Female
/
Humans
Idioma:
En
Revista:
Clin Neurol Neurosurg
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón