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A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma
- Source :
- Neurobiology of Aging. 35:444.e11-444.e14
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
Abstract
- A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9orf72) was recently identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis. Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion carrier, who developed a dysplastic gangliocytoma (Lhermitte-Duclos disease), a rare hamartoma/overgrowth syndrome of cerebellar granule cells associated with mutations in the phosphatase and tensin homolog gene. In addition to the dysplastic gangliocytoma, the patient showed typical transactive response DNA-binding protein with Mr 43 kD (TDP-43) pathology mainly in the cortex and the substantia nigra and numerous p62-positive/TDP-43-negative inclusions in the cerebellar granule cells. His sister carried the same gene defect and showed a similar type of TDP-43/p62 pathology in her brain. Our findings confirm that the clinical and pathologic picture of C9orf72 mutation carriers is more heterogeneous than originally thought and warrants further studies on the possible involvement of phosphatase and tensin homolog gene pathway in the specific cerebellar granule cell pathology associated with C9orf72 expansion.
- Subjects :
- Male
Heterozygote
Aging
Cerebellum
Pathology
medicine.medical_specialty
Lhermitte–Duclos disease
C9orf72
Tensins
medicine
Humans
Tensin
PTEN
Gangliocytoma
Ganglioglioma
DNA Repeat Expansion
C9orf72 Protein
biology
Brain Neoplasms
business.industry
General Neuroscience
Microfilament Proteins
Proteins
Middle Aged
medicine.disease
Phosphoric Monoester Hydrolases
DNA-Binding Proteins
medicine.anatomical_structure
Frontotemporal Dementia
Mutation
biology.protein
Female
Neurology (clinical)
Geriatrics and Gerontology
business
Trinucleotide repeat expansion
Signal Transduction
Developmental Biology
Frontotemporal dementia
Subjects
Details
- ISSN :
- 01974580
- Volume :
- 35
- Database :
- OpenAIRE
- Journal :
- Neurobiology of Aging
- Accession number :
- edsair.doi.dedup.....00cf1697c9a55d868b621cbb8578478b