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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease

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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. / Zarranz, J J; Ferrer, I; Lezcano, E; Forcadas, M I; Eizaguirre, B; Atarés, B; Puig, B; Gómez-Esteban, J C; Fernández-Maiztegui, C; Rouco, I; Pérez-Concha, T; Fernández, M; Rodríguez, O; Rodríguez-Martínez, A B; de Pancorbo, M Martínez; Pastor, P; Pérez-Tur, J; Puig Martorell, Berta.

in: NEUROLOGY, Jahrgang 64, Nr. 9, 10.05.2005, S. 1578-85.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Zarranz, JJ, Ferrer, I, Lezcano, E, Forcadas, MI, Eizaguirre, B, Atarés, B, Puig, B, Gómez-Esteban, JC, Fernández-Maiztegui, C, Rouco, I, Pérez-Concha, T, Fernández, M, Rodríguez, O, Rodríguez-Martínez, AB, de Pancorbo, MM, Pastor, P, Pérez-Tur, J & Puig Martorell, B 2005, 'A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease', NEUROLOGY, Jg. 64, Nr. 9, S. 1578-85. https://doi.org/10.1212/01.WNL.0000160116.65034.12

APA

Zarranz, J. J., Ferrer, I., Lezcano, E., Forcadas, M. I., Eizaguirre, B., Atarés, B., Puig, B., Gómez-Esteban, J. C., Fernández-Maiztegui, C., Rouco, I., Pérez-Concha, T., Fernández, M., Rodríguez, O., Rodríguez-Martínez, A. B., de Pancorbo, M. M., Pastor, P., Pérez-Tur, J., & Puig Martorell, B. (2005). A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. NEUROLOGY, 64(9), 1578-85. https://doi.org/10.1212/01.WNL.0000160116.65034.12

Vancouver

Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B et al. A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. NEUROLOGY. 2005 Mai 10;64(9):1578-85. https://doi.org/10.1212/01.WNL.0000160116.65034.12

Bibtex

@article{28bc3dc31c4b4873940fca306c0f677c,
title = "A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease",
abstract = "BACKGROUND: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene.METHODS: The authors identified two apparently unrelated pedigrees with an autosomal dominant neurodegenerative condition. Thirteen patients were examined and eight autopsies were performed.RESULTS: Mean age at onset was 48 years. Mean disease duration was 6 years. Dysarthria often heralded the disease. All cases had parkinsonism and pyramidalism and half of them had amyotrophy. Behavioral or personality changes were not a prominent feature. Cognitive decline appeared late in the evolution. Neuropathologically, a massive degeneration of the substantia nigra without Lewy bodies was a constant finding. A variable degree of frontotemporal atrophy was found. Corticospinal tract degeneration and anterior horn neuron loss were present in six of seven autopsies in which the spinal cord was examined. An extensive deposition of abnormal tau protein in a mixed pattern (neuronal, glial) was observed. Pick's bodies were not seen. Biochemical analysis of tau revealed two bands of 64 and 68 kDa.CONCLUSION: Genetic analysis revealed the same novel mutation (K317M) in exon 11 of the MAPT gene in both pedigrees. A common haplotype between members of the two pedigrees suggests that they belong to the same family.",
keywords = "Adult, Brain, Chromosomes, Human, Pair 17, DNA Mutational Analysis, Dementia, Female, Genes, Dominant, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged, Motor Neuron Disease, Motor Neurons, Mutation, Nerve Tissue Proteins, Parkinsonian Disorders, Pedigree, Pyramidal Tracts, Spinal Cord, Substantia Nigra, tau Proteins",
author = "Zarranz, {J J} and I Ferrer and E Lezcano and Forcadas, {M I} and B Eizaguirre and B Atar{\'e}s and B Puig and G{\'o}mez-Esteban, {J C} and C Fern{\'a}ndez-Maiztegui and I Rouco and T P{\'e}rez-Concha and M Fern{\'a}ndez and O Rodr{\'i}guez and Rodr{\'i}guez-Mart{\'i}nez, {A B} and {de Pancorbo}, {M Mart{\'i}nez} and P Pastor and J P{\'e}rez-Tur and {Puig Martorell}, Berta",
year = "2005",
month = may,
day = "10",
doi = "10.1212/01.WNL.0000160116.65034.12",
language = "English",
volume = "64",
pages = "1578--85",
journal = "NEUROLOGY",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "9",

}

RIS

TY - JOUR

T1 - A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease

AU - Zarranz, J J

AU - Ferrer, I

AU - Lezcano, E

AU - Forcadas, M I

AU - Eizaguirre, B

AU - Atarés, B

AU - Puig, B

AU - Gómez-Esteban, J C

AU - Fernández-Maiztegui, C

AU - Rouco, I

AU - Pérez-Concha, T

AU - Fernández, M

AU - Rodríguez, O

AU - Rodríguez-Martínez, A B

AU - de Pancorbo, M Martínez

AU - Pastor, P

AU - Pérez-Tur, J

AU - Puig Martorell, Berta

PY - 2005/5/10

Y1 - 2005/5/10

N2 - BACKGROUND: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene.METHODS: The authors identified two apparently unrelated pedigrees with an autosomal dominant neurodegenerative condition. Thirteen patients were examined and eight autopsies were performed.RESULTS: Mean age at onset was 48 years. Mean disease duration was 6 years. Dysarthria often heralded the disease. All cases had parkinsonism and pyramidalism and half of them had amyotrophy. Behavioral or personality changes were not a prominent feature. Cognitive decline appeared late in the evolution. Neuropathologically, a massive degeneration of the substantia nigra without Lewy bodies was a constant finding. A variable degree of frontotemporal atrophy was found. Corticospinal tract degeneration and anterior horn neuron loss were present in six of seven autopsies in which the spinal cord was examined. An extensive deposition of abnormal tau protein in a mixed pattern (neuronal, glial) was observed. Pick's bodies were not seen. Biochemical analysis of tau revealed two bands of 64 and 68 kDa.CONCLUSION: Genetic analysis revealed the same novel mutation (K317M) in exon 11 of the MAPT gene in both pedigrees. A common haplotype between members of the two pedigrees suggests that they belong to the same family.

AB - BACKGROUND: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene.METHODS: The authors identified two apparently unrelated pedigrees with an autosomal dominant neurodegenerative condition. Thirteen patients were examined and eight autopsies were performed.RESULTS: Mean age at onset was 48 years. Mean disease duration was 6 years. Dysarthria often heralded the disease. All cases had parkinsonism and pyramidalism and half of them had amyotrophy. Behavioral or personality changes were not a prominent feature. Cognitive decline appeared late in the evolution. Neuropathologically, a massive degeneration of the substantia nigra without Lewy bodies was a constant finding. A variable degree of frontotemporal atrophy was found. Corticospinal tract degeneration and anterior horn neuron loss were present in six of seven autopsies in which the spinal cord was examined. An extensive deposition of abnormal tau protein in a mixed pattern (neuronal, glial) was observed. Pick's bodies were not seen. Biochemical analysis of tau revealed two bands of 64 and 68 kDa.CONCLUSION: Genetic analysis revealed the same novel mutation (K317M) in exon 11 of the MAPT gene in both pedigrees. A common haplotype between members of the two pedigrees suggests that they belong to the same family.

KW - Adult

KW - Brain

KW - Chromosomes, Human, Pair 17

KW - DNA Mutational Analysis

KW - Dementia

KW - Female

KW - Genes, Dominant

KW - Genetic Markers

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Genotype

KW - Humans

KW - Male

KW - Middle Aged

KW - Motor Neuron Disease

KW - Motor Neurons

KW - Mutation

KW - Nerve Tissue Proteins

KW - Parkinsonian Disorders

KW - Pedigree

KW - Pyramidal Tracts

KW - Spinal Cord

KW - Substantia Nigra

KW - tau Proteins

U2 - 10.1212/01.WNL.0000160116.65034.12

DO - 10.1212/01.WNL.0000160116.65034.12

M3 - SCORING: Journal article

C2 - 15883319

VL - 64

SP - 1578

EP - 1585

JO - NEUROLOGY

JF - NEUROLOGY

SN - 0028-3878

IS - 9

ER -