Literature DB >> 6707681

Manifesting heterozygosity in sex-linked spastic paraplegia?

I D Young, I F Pye, J R Moore.   

Abstract

An unusual form of hereditary spastic paraplegia is described. Affected females have a late-onset slowly progressive spastic paraparesis. Affected males show oligophrenia with a rapidly progressive spastic quadriplegia. The mode of inheritance is consistent with sex-linkage, with partial manifestation in female carriers.

Entities:  

Mesh：

Year:  1984        PMID： 6707681      PMCID： PMC1027734          DOI： 10.1136/jnnp.47.3.311

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  21 in total

1.  Familial spastic paraparesis, optic atrophy, and dementia. Clinical observations of affected kindred.

Authors:  A D Rothner; F Yahr; M D Yahr
Journal:  N Y State J Med       Date:  1976-05

2.  Mental retardation and spastic paraparesis in four of eight siblings.

Authors:  R B Allport
Journal:  Lancet       Date:  1971-11-13       Impact factor: 79.321

3.  Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings.

Authors:  G I Sugarman
Journal:  Birth Defects Orig Artic Ser       Date:  1974

4.  X-linked hereditary spastic paraplegia.

Authors:  J F Raggio; T F Thurmon; E E Anderson
Journal:  J La State Med Soc       Date:  1973-01

5.  Two kindreds with a sex-linked recessive form of spastic paraplegia.

Authors:  T F Thurmon; B A Walker; C I Scott; M H Abbott
Journal:  Birth Defects Orig Artic Ser       Date:  1971-02

6.  The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.

Authors:  H E Cross; V A McKusick
Journal:  Arch Neurol       Date:  1967-05

7.  Sex-linked spastic paraplegia.

Authors:  H S Baar; A M Gabriel
Journal:  Am J Ment Defic       Date:  1966-07

8.  Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome.

Authors:  G Neuhäuser; C Wiffler; J M Opitz
Journal:  Clin Genet       Date:  1976-03       Impact factor: 4.438

9.  Progressive quadriparesis, mental retardation, retinitis pigmentosa, and hearing loss: report of two sibs.

Authors:  A M Gordon; A J Capute; B W Konigsmark
Journal:  Johns Hopkins Med J       Date:  1976-04

10.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06
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