Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion
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Summary
It is shown that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.
- Type
- article
- Published
- 2012-04-06
- Cited by
- 15
- References
- 18
- Access
- Open access
- OpenAlex
- https://openalex.org/W2119718615
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:19759898
Keywords
C9orf72, Frontotemporal dementia, Trinucleotide repeat expansion, Dementia, Psychology
References
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- Spectrum of frontal lobe dementia in a Swedish family.
- Chromosome 9p21 in Amyotrophic Lateral Sclerosis in Finland: A Genome-Wide Association Study
- Magnetic Resonance Imaging and Histopathology in Dementia, Clinically of Frontotemporal Type
- The chromosome 9 ALS and FTD locus is probably derived from a single founder
- Familial progressive aphasia: its relationship to other forms of lobar atrophy.
- Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration
- Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
- Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
- Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.
- A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
- Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis
- Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
- Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups.
Cited by
- C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study
- Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.
- C9ORF72 Mutations in Neurodegenerative Diseases
- The clinical and pathological phenotypes of frontotemporal dementia with C9ORF72 mutations.
- Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
- Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.
- Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia
- C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.
- C9orf72; abnormal RNA expression is the key.
- The clinical spectrum of sporadic and familial forms of frontotemporal dementia
- Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden.
- Genetics of frontotemporal dementia in China
- Changing perspectives on frontotemporal dementia: A review.
- C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia
- Original Article Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics
- Genetics of Frontotemporal Dementia
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