The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

Lomen‐Hoerth, Catherine; Anderson, Thomas; Miller, Bruce L.

doi:10.1212/wnl.59.7.1077

Cited by 628 publications

(422 citation statements)

References 11 publications

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“…On one hand, when patients with FTD with no known diagnosis of MND are clinically and electrophysiologically assessed for the presence of MND, 15 % met criteria for a diagnosis of MND [25]. On the other hand, some patients with classical MND, who had no dementia initially, develop cognitive deficits in the realm of frontal executive functions (cMND) and frontal lobe abnormalities on neuroimaging [28].…”

Section: Discussionmentioning

confidence: 99%

Slow vertical saccades in the frontotemporal dementia with motor neuron disease

et al. 2008

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Section: Discussionmentioning

confidence: 99%

Slow vertical saccades in the frontotemporal dementia with motor neuron disease

et al. 2008

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“…1 FTD presents with changes in behaviour, personality and language due to degeneration of neurons in the frontal and temporal lobes. 2 Both disorders can be familial and in a subset of these kindreds, individuals can present with either ALS or FTD, or features of both. In 2006, we reported linkage to a 11-Mb locus on chromosome 9p13.2-21.3 in Dutch and Scandanavian kindreds with autosomal-dominant ALS-FTD.…”

Section: Introductionmentioning

confidence: 99%

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

et al. 2012

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A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS þ / ÀFTD from five European cohorts (total n ¼ 1347). Single-nucleotide polymorphisms defining the risk haplotype in linked kindreds were genotyped in cases (n ¼ 434) and controls (n ¼ 856). Haplotypes were analysed using PLINK and aged using DMLE þ . In a London clinic cohort, the HREM was the most common mutation in familial ALS þ / ÀFTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0.3%). HREM prevalence was high for familial ALS þ / ÀFTD throughout Europe: Belgium 19/22 (86%), Sweden 30/41 (73%), the Netherlands 10/27 (37%) and Italy 4/20 (20%). The HREM did not affect the age at onset or survival of ALS patients. Haplotype analysis identified a common founder in all 137 HREM carriers that arose around 6300 years ago. The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, Po10 À8 ). We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe.

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“…A subgroup of FTLD patients develops the motor neuron disease amyotrophic lateral sclerosis (ALS). [2][3][4] Up to 50% of FTLD patients have a positive family history for dementia, indicating that genetic factors contribute to the etiology. Mutations in several genes have been shown to cause FTLD and most frequently in the microtubule-associated protein tau 5 (MAPT, OMIM #600274), progranulin 6,7 (GRN, OMIM #607485) and in the recently identified chromosome 9 openreading frame 72 gene 8,9 (C9orf72, OMIM #105550).…”

Section: Introductionmentioning

confidence: 99%