Phenotypic presentation of frontotemporal dementia with Parkinsonism‐chromosome 17 type P301S in a patient of Jewish‐Algerian origin

Werber, Edith; Klein, Colin; Grünfeld, Jonathan; Rabey, J. M.

doi:10.1002/mds.10401

Cited by 14 publications

(10 citation statements)

References 18 publications

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“…Unfortunately, neuropsychological or neuropathological data were unavailable for all but the autopsied cases. Similar to our pedigree, a FTDP patient of Jewish‐Algerian origin was reported to have a MAPT P301S mutation and to have a family history of early‐onset parkinsonism, affecting her mother, a brother, and a sister, all of whom died shortly after the onset of the disease 14. One plausible explanation is a lack of clinical recognition of the variable phenotypic expression of dementia.…”

Section: Discussionsupporting

confidence: 69%

“…To date, five families (from Italy, Germany, Japan, United Kingdom, and Israel) with a P301S mutation have been reported 6, 8–10, 13, 14. The Italian family included two patients who presented different phenotypes, namely, one of frontotemporal dementia and the second of corticobasal degeneration 6.…”

Section: Discussionmentioning

confidence: 99%

“…The UK patient was mentioned briefly to have frontal syndrome, dysphagia, and poor balance 10. The Jewish‐Algerian patients that Lossos and colleagues13 and Weber and colleagues14 reported were actually members of an extended Israeli‐French kindred (Z. K. Wszolek, personal communication), which included a dementia‐predominant phenotype and a rapidly progressive neurocognitive disorder characterized by extrapyramidal and pyramidal signs. These previous and current data confirm that the clinical expression of a P301S mutation may be broad even in the same family.…”

Section: Discussionmentioning

confidence: 99%

“…To date, five families with a P301S mutation have been reported 6, 8–10, 13, 14. However, information on pathology is limited to one patient.…”

mentioning

confidence: 99%

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Phenotypic heterogeneity within a new family with the MAPT p301s mutation

Yasuda

Nakamura

Kawamata

et al. 2005

Annals of Neurology

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Mutations in the gene encoding the microtubule-associated protein tau (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17. Clinical variability is seen not only among families with different mutations, but also among family members with the same mutation. We investigated a newly identified familial frontotemporal dementia and parkinsonism family. The disease was of early onset and was inherited as an autosomal dominant trait. Clinically, parkinsonism was the prominent and often early feature, and it preceded dementia. Three autopsied cases shared involvement predominantly in the frontal and temporal lobes and also in the subcortical nuclei, including substantia nigra, globus pallidus, and subthalamic nucleus, that microscopically consisted of neuronal loss, microvacuolation, and astrocytic fibrosis. Immunohistochemistry demonstrated neuropil threads, ballooned cells, and glial fibrillary tangles. Sequencing analysis of the MAPT gene showed an alteration in one allele, resulting in a P301S substitution. These findings suggest that the MAPT P301S mutation can cause pathologically subcortical-predominant, neuropil thread-rich, tau-containing lesions, which could result in consistent parkinsonism. Our study confirms the notion that the phenotype observed in affected individuals from P301S MAPT mutation families is heterogeneous and is broader than the phenotypes seen to date in affected family members carrying other MAPT mutations.

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Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…To date, five families with a P301S mutation have been reported 6, 8–10, 13, 14. However, information on pathology is limited to one patient.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Phenotypic heterogeneity within a new family with the MAPT p301s mutation

Yasuda

Nakamura

Kawamata

et al. 2005

Annals of Neurology

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“…Figure shows the 53 mutations that are currently known [6–9,14,16,33,34,38,39,47–132]. The most common are N279K, P301L and intron 10 +16 .…”

Section: Genetics and Molecular Pathologymentioning

confidence: 99%

Invited review: Frontotemporal dementia caused by microtubule‐associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging

Ghetti

Oblak

Boeve

et al. 2015

Neuropathology Appl Neurobio

380

365

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Hereditary frontotemporal dementia associated with mutations in the microtubule-associated protein tau gene (MAPT) is a protean disorder. Three neuropathologic subtypes can be recognized, based on the presence of inclusions made of tau isoforms with three and four repeats, predominantly three repeats and mostly four repeats. This is relevant for establishing a correlation between structural magnetic resonance imaging and positron emission tomography using tracers specific for aggregated tau. Longitudinal studies will be essential to determine the evolution of anatomical alterations from the asymptomatic stage to the various phases of disease following the onset of symptoms.

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