A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

Ben C.J. Hamel; Pieter Wesseling; Willy O. Renier; Bellinda Van den Helm; Hans Hilger Ropers; Hannie Kremer; Edwin C.M. Mariman

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

Ben C.J. Hamel
, Pieter Wesseling
, Willy O. Renier
, Bellinda Van den Helm
, Hans Hilger Ropers
, Hannie Kremer
, Edwin C.M. Mariman

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

6 Citations (Scopus)

Abstract

We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at θ = 0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.

Original language	English
Pages (from-to)	140-143
Number of pages	4
Journal	Journal of Medical Genetics
Volume	36
Issue number	2
Publication status	Published - 1999
Externally published	Yes

Keywords

Early death
Hypomyelination
Pericentromeric region
XLMR

Cite this

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title = "A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region",

abstract = "We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at θ = 0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.",

keywords = "Early death, Hypomyelination, Pericentromeric region, XLMR",

author = "Hamel, \{Ben C.J.\} and Pieter Wesseling and Renier, \{Willy O.\} and \{Van den Helm\}, Bellinda and Ropers, \{Hans Hilger\} and Hannie Kremer and Mariman, \{Edwin C.M.\}",

year = "1999",

language = "English",

volume = "36",

pages = "140--143",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "2",

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A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region. / Hamel, Ben C.J.; Wesseling, Pieter; Renier, Willy O. et al.
In: Journal of Medical Genetics, Vol. 36, No. 2, 1999, p. 140-143.

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

TY - JOUR

T1 - A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

AU - Hamel, Ben C.J.

AU - Wesseling, Pieter

AU - Renier, Willy O.

AU - Van den Helm, Bellinda

AU - Ropers, Hans Hilger

AU - Kremer, Hannie

AU - Mariman, Edwin C.M.

PY - 1999

Y1 - 1999

N2 - We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at θ = 0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.

AB - We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at θ = 0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.

KW - Early death

KW - Hypomyelination

KW - Pericentromeric region

KW - XLMR

UR - https://www.scopus.com/pages/publications/0033056755

M3 - Article

C2 - 10051014

AN - SCOPUS:0033056755

SN - 0022-2593

VL - 36

SP - 140

EP - 143

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 2

ER -

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

Abstract

Keywords

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