X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies

Stephan Claes; Koenraad Devriendt; Patrizia D'Adamo; Jan Meireleire; Peter Raeymaekers; Daniela Toniolo; Jean Jacques Cassiman; Jean Pierre Fryns

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies

Stephan Claes, Koenraad Devriendt, Patrizia D'Adamo, Jan Meireleire, Peter Raeymaekers, Daniela Toniolo, Jean Jacques Cassiman, Jean Pierre Fryns

IRCCS Ospedale San Raffaele

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

Abstract

The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the LICAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.

Original language	English
Pages (from-to)	155-161
Number of pages	7
Journal	Clinical Genetics
Volume	52
Issue number	3
Publication status	Published - Sep 1997

Keywords

L1CAM
Linkage analysis
Spastic paraplegia
X-linked mental retardation

ASJC Scopus subject areas

Genetics(clinical)
Genetics

Cite this

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family : Clinical and genetic studies. / Claes, Stephan; Devriendt, Koenraad; D'Adamo, Patrizia; Meireleire, Jan; Raeymaekers, Peter; Toniolo, Daniela; Cassiman, Jean Jacques; Fryns, Jean Pierre.

In: Clinical Genetics, Vol. 52, No. 3, 09.1997, p. 155-161.

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

@article{6675a2d608ce446ab81d85bf6e0ad26f,

title = "X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies",

abstract = "The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the LICAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.",

keywords = "L1CAM, Linkage analysis, Spastic paraplegia, X-linked mental retardation",

author = "Stephan Claes and Koenraad Devriendt and Patrizia D'Adamo and Jan Meireleire and Peter Raeymaekers and Daniela Toniolo and Cassiman, {Jean Jacques} and Fryns, {Jean Pierre}",

year = "1997",

month = sep,

language = "English",

volume = "52",

pages = "155--161",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "3",

}

TY - JOUR

T1 - X-linked severe mental retardation and a progressive neurological disorder in a Belgian family

T2 - Clinical and genetic studies

AU - Claes, Stephan

AU - Devriendt, Koenraad

AU - D'Adamo, Patrizia

AU - Meireleire, Jan

AU - Raeymaekers, Peter

AU - Toniolo, Daniela

AU - Cassiman, Jean Jacques

AU - Fryns, Jean Pierre

PY - 1997/9

Y1 - 1997/9

N2 - The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the LICAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.

AB - The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the LICAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.

KW - L1CAM

KW - Linkage analysis

KW - Spastic paraplegia

KW - X-linked mental retardation

UR - http://www.scopus.com/inward/record.url?scp=0030770520&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030770520&partnerID=8YFLogxK

M3 - Article

C2 - 9377804

AN - SCOPUS:0030770520

VL - 52

SP - 155

EP - 161

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 3

ER -

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies

Abstract

Keywords

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this