Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Afif Hentati; Margaret A. Pericak-vance; Felicia Lennon; Brad Wasserman; Faycal Hentati; Tony Juneja; Misha H. Angrist; Wu Yen Hung; Rose Mary Boustany; Saeed Bohlega; Zafar Iqbal; Carl H. Huether; Mongi Ben Hamida; Teepu Siddique

doi:10.1093/hmg/3.10.1867

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Afif Hentati, Margaret A. Pericak-vance, Felicia Lennon, Brad Wasserman, Faycal Hentati, Tony Juneja, Misha H. Angrist, Wu Yen Hung, Rose Mary Boustany, Saeed Bohlega, Zafar Iqbal, Carl H. Huether, Mongi Ben Hamida, Teepu Siddique^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

85 Scopus citations

Abstract

'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(θ) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P>0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.

Original language	English (US)
Pages (from-to)	1867-1871
Number of pages	5
Journal	Human molecular genetics
Volume	3
Issue number	10
DOIs	https://doi.org/10.1093/hmg/3.10.1867
State	Published - Oct 1994
Externally published	Yes

Funding

We are grateful to the families who participated in this study. We thank Annette Lyles for her assistance in preparing the manuscript. This work was supported by: National Institutes of Neurological Disorders and Stroke (TS, M.A.P-V), Les Turner ALS Foundation (T.S.), the Searle Family Center for Neurological Disorders (T.S.), Vena E.Schaaf ALS Research Fund (T.S.), Muriel Heller ALS Fellowship (W-Y.H), Association Tunisienne Contre les Myopathies (M.B.H.,F.H.), the Gisela Fund for ALS Research (T.S.), the Muscular Dystrophy Association of America (T.S., M.A.P-V, A.H.) and the Herbert & Florence C.Wenske Foundation (T.S.)

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Molecular Biology

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10.1093/hmg/3.10.1867

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Hentati, A., Pericak-vance, M. A., Lennon, F., Wasserman, B., Hentati, F., Juneja, T., Angrist, M. H., Hung, W. Y., Boustany, R. M., Bohlega, S., Iqbal, Z., Huether, C. H., Hamida, M. B., & Siddique, T. (1994). Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Human molecular genetics, 3(10), 1867-1871. https://doi.org/10.1093/hmg/3.10.1867

@article{8985532555f2449da7ab3c9c226d2089,

title = "Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers",

abstract = "'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(θ) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P>0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.",

author = "Afif Hentati and Pericak-vance, {Margaret A.} and Felicia Lennon and Brad Wasserman and Faycal Hentati and Tony Juneja and Angrist, {Misha H.} and Hung, {Wu Yen} and Boustany, {Rose Mary} and Saeed Bohlega and Zafar Iqbal and Huether, {Carl H.} and Hamida, {Mongi Ben} and Teepu Siddique",

note = "Funding Information: We are grateful to the families who participated in this study. We thank Annette Lyles for her assistance in preparing the manuscript. This work was supported by: National Institutes of Neurological Disorders and Stroke (TS, M.A.P-V), Les Turner ALS Foundation (T.S.), the Searle Family Center for Neurological Disorders (T.S.), Vena E.Schaaf ALS Research Fund (T.S.), Muriel Heller ALS Fellowship (W-Y.H), Association Tunisienne Contre les Myopathies (M.B.H.,F.H.), the Gisela Fund for ALS Research (T.S.), the Muscular Dystrophy Association of America (T.S., M.A.P-V, A.H.) and the Herbert & Florence C.Wenske Foundation (T.S.) Copyright: Copyright 2019 Elsevier B.V., All rights reserved.",

year = "1994",

month = oct,

doi = "10.1093/hmg/3.10.1867",

language = "English (US)",

volume = "3",

pages = "1867--1871",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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}

Hentati, A, Pericak-vance, MA, Lennon, F, Wasserman, B, Hentati, F, Juneja, T, Angrist, MH, Hung, WY, Boustany, RM, Bohlega, S, Iqbal, Z, Huether, CH, Hamida, MB & Siddique, T 1994, 'Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers', Human molecular genetics, vol. 3, no. 10, pp. 1867-1871. https://doi.org/10.1093/hmg/3.10.1867

TY - JOUR

T1 - Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

AU - Hentati, Afif

AU - Pericak-vance, Margaret A.

AU - Lennon, Felicia

AU - Wasserman, Brad

AU - Hentati, Faycal

AU - Juneja, Tony

AU - Angrist, Misha H.

AU - Hung, Wu Yen

AU - Boustany, Rose Mary

AU - Bohlega, Saeed

AU - Iqbal, Zafar

AU - Huether, Carl H.

AU - Hamida, Mongi Ben

AU - Siddique, Teepu

N1 - Funding Information: We are grateful to the families who participated in this study. We thank Annette Lyles for her assistance in preparing the manuscript. This work was supported by: National Institutes of Neurological Disorders and Stroke (TS, M.A.P-V), Les Turner ALS Foundation (T.S.), the Searle Family Center for Neurological Disorders (T.S.), Vena E.Schaaf ALS Research Fund (T.S.), Muriel Heller ALS Fellowship (W-Y.H), Association Tunisienne Contre les Myopathies (M.B.H.,F.H.), the Gisela Fund for ALS Research (T.S.), the Muscular Dystrophy Association of America (T.S., M.A.P-V, A.H.) and the Herbert & Florence C.Wenske Foundation (T.S.) Copyright: Copyright 2019 Elsevier B.V., All rights reserved.

PY - 1994/10

Y1 - 1994/10

N2 - 'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(θ) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P>0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.

AB - 'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(θ) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P>0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.

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DO - 10.1093/hmg/3.10.1867

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AN - SCOPUS:0028067709

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VL - 3

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EP - 1871

JO - Human molecular genetics

JF - Human molecular genetics

IS - 10

ER -

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Abstract

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