Neurology. 1985 Aug;35(8):1233-5.

Familial spastic paraparesis: an adrenoleukodystrophy phenotype?

O'Neill BP, Swanson JW, Brown FR 3rd, Griffin JW, Moser HW.

Abstract

Adrenoleukodystrophy (ALD) must be considered in the diagnosis of men with progressive nervous system disease. We found the biochemical defect characteristic of ALD in two brothers with spastic paraparesis of late adult onset. Family study then revealed other affected men and asymptomatic heterozygotes in a pattern that conformed to an X-linked pattern of inheritance.

PMID:: 4022363; [PubMed - indexed for MEDLINE]

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[Familial spastic paraparesis: phenotypic variant of adrenoleukodystrophy]. [Neurologia. 1990]
[Familial spastic paraparesis: phenotypic variant of adrenoleukodystrophy].
de Andrés C, Giménez-Roldán S. Neurologia. 1990 Jan; 5(1):24-8.
Familial spastic paraparesis and deafness. A new x-linked neurodegenerative disorder. [Arch Neurol. 1986]
Familial spastic paraparesis and deafness. A new x-linked neurodegenerative disorder.
Wells CR, Jankovic J. Arch Neurol. 1986 Sep; 43(9):943-6.
Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. [Neurology. 1984]
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O'Neill BP, Moser HW, Saxena KM, Marmion LC. Neurology. 1984 Jun; 34(6):798-801.
Review [A case of symptomatic adrenoleukodystrophy heterozygote manifested by spastic paraparesis of late onset]. [Rinsho Shinkeigaku. 1989]
Review [A case of symptomatic adrenoleukodystrophy heterozygote manifested by spastic paraparesis of late onset].
Nemoto H, Sunohara N, Matsuda Y, Satoyoshi E, Yagishita A. Rinsho Shinkeigaku. 1989 Jul; 29(7):914-8.
Review [X-linked adrenoleukodystrophy]. [Ann Endocrinol (Paris). 2007]
Review [X-linked adrenoleukodystrophy].
Aubourg P. Ann Endocrinol (Paris). 2007 Dec; 68(6):403-11. Epub 2007 May 29.

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Cited by 1 PubMed Central article

Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome? [J Med Genet. 1998]
Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?
Teebi AS, Miller S, Ostrer H, Eydoux P, Colomb-Brockmann C, Oudjhane K, Watters G. J Med Genet. 1998 Sep; 35(9):759-62.

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