Brait–Fahn–Schwarz disease: Parkinson’s disease and amyotrophic lateral sclerosis complex

Erol, Asiye Mukaddes; Çelık, Aykut Ferhat; Çelik, Canan; Basak, A. Nazli

doi:10.1007/s13760-015-0531-z

Cited by 4 publications

(5 citation statements)

References 6 publications

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“…The clinical picture resembles the phenotype of the BFS disease [ 3 ] characterized by PD followed after 1–2 years by ALS. The BFS disease has been described in few case reports [ 3 , 5 , 6 , 8 ] and screened in two cohort studies [ 4 , 7 ], for a total of no more than 50 cases since its first description in 1973 [ 3 ]. In the first cohort study, 27 of 5.500 patients with parkinsonism also had MND, only seven of whom had PD-ALS complex [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…No evidence of mutations in genes associated with FTD-ALS ( SOD1, FUS, angiogenin, GRN ) nor with PD ( Park-1, Park-2, Park-6, Park-7, DJ-1 ) were detected so far. MAPT gene was not screened in the total of the cases [ 5 , 6 , 8 ]. Pasquini et al reported one mutation in C9orf72 gene and one in TARDP gene, but it is not specified if they refer to patients with atypical parkinsonism-MND or with PD-ALS [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…Frontotemporal dementia (FTD)-parkinsonism and amyotrophic lateral sclerosis (ALS)-FTD are typical examples [ 1 , 2 ]. Instead, the association between Parkinson disease (PD) and ALS, a complex termed Brait–Fahn–Schwarz disease (BFS) is extremely rare [ 3 – 8 ]. After the first description [ 3 ], few cases have been sporadically reported worldwide [ 4 – 8 ].…”

Section: Introductionmentioning

confidence: 99%

“…Instead, the association between Parkinson disease (PD) and ALS, a complex termed Brait–Fahn–Schwarz disease (BFS) is extremely rare [ 3 – 8 ]. After the first description [ 3 ], few cases have been sporadically reported worldwide [ 4 – 8 ]. Neuropathological information on BFS patients is scarce and controversial [ 3 – 8 ], and a genetic link has not been identified so far.…”

Section: Introductionmentioning

confidence: 99%

“…After the first description [ 3 ], few cases have been sporadically reported worldwide [ 4 – 8 ]. Neuropathological information on BFS patients is scarce and controversial [ 3 – 8 ], and a genetic link has not been identified so far.…”

Section: Introductionmentioning

confidence: 99%

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Parkinson-ALS with a novel MAPT variant

Ferrari,

Ingannato,

Matà

et al. 2023

Neurol Sci

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The mutations on microtubule associated protein tau (MAPT) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism, such as progressive supranuclear palsy and corticobasal degeneration, and rarely with amyotrophic lateral sclerosis (ALS). FTD-parkinsonism and FTD-ALS are clinical overlaps included in the spectrum of MAPT mutation’s phenotypes. The mutations on MAPT gene cause the dysfunction of tau protein determining its accumulation in neurofibrillary tangles. Recent data describe frequently the co-occurrence of the aggregation of tau protein and α-synuclein in patients with parkinsonism and Parkinson disease (PD), suggesting an interaction of the two proteins in determining neurodegenerative process. The sporadic description of PD-ALS clinical complex, known as Brait–Fahn–Schwarz disease, supports the hypothesis of common neuropathological pathways between different disorders. Here we report the case of a 54-year-old Italian woman with idiopathic PD later complicated by ALS carrying a novel MAPT variant (Pro494Leu). The variant is characterized by an amino acid substitution and is classified as damaging for MAPT functions. The case supports the hypothesis of tau dysfunction as the basis of multiple neurodegenerative disorders.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Parkinson-ALS with a novel MAPT variant

Ferrari,

Ingannato,

Matà

et al. 2023

Neurol Sci

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Familial neurodegenerative disease with parkinsonism syndrome and amyotrophic lateral sclerosis

Davydova

Tappakhov

Попова

et al. 2018

Nevrologiâ, nejropsihiatriâ, psihosomatika

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The concurrence of amyotrophic lateral sclerosis (ALS) with parkinsonism syndrome and dementia is described as Guam ALS, in which up to 70% of patients have a positive family history. The concurrence of parkinsonism with other neurological disorders, such as autonomic failure, dementia, cerebellar ataxia, visual disturbances, and pyramidal syndrome, is characteristic of some neurodegenerative diseases, for example, multiple system atrophy, dementia with Lewy bodies, progressive supranuclear palsy, and corticobasal degeneration. These diseases are common in the practice of a neurologist, have a detailed description and clear diagnostic criteria. The isolated concurrence of parkinsonism and ALS without other neurological disorders is extremely rare. This disorder is known as Brait–Fahn–Schwartz disease and is named after the scientists who first described this overlap syndrome. No cases of familial neurodegenerative disease concurrent with parkinsonism and ALS have been found in the literature. This paper presents the authors' own case of two siblings, one of whom is observed to have parkinsonism with ALS syndrome; and the other had Parkinson's disease.

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Brait–Fahn–Schwarz disease (result of two-year clinical follow-up)

Dynin,

Litvinenko,

Emelin

et al. 2023

РНЖ

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The article presents the result of a two-year follow-up of a patient with a combination of parkinsonism syndromes and amyotrophic lateral sclerosis, a rare form of a neurodegenerative disease of the central nervous system called “Bright–Fan–Schwarz disease”. The diversity and polymorphism of symptoms in this disease can lead to diffi culties in diagnosis and therapy. The data of the patient’s anamnesis, the dynamics of the clinical picture during the stay in the hospital, the diagnostic and therapeutic measures taken, and the subsequent follow-up are given. In conclusion, a generalization of the features of the clinical picture and the progression of the disease in question is presented.

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Brait–Fahn–Schwarz disease: Parkinson’s disease and amyotrophic lateral sclerosis complex

Cited by 4 publications

References 6 publications

Parkinson-ALS with a novel MAPT variant

Parkinson-ALS with a novel MAPT variant

Familial neurodegenerative disease with parkinsonism syndrome and amyotrophic lateral sclerosis

Brait–Fahn–Schwarz disease (result of two-year clinical follow-up)

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