Literature DB >> 6886718

Familial spinocerebellar ataxia with skin hyperpigmentation.

M Daras, A J Tuchman, S David.   

Abstract

Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist between heredo-familial ataxias and disordered skin pigmentation, but the exact mechanism remains unclear.

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Year:  1983        PMID: 6886718      PMCID: PMC1027528          DOI: 10.1136/jnnp.46.8.743

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


  4 in total

1.  Neurological manifestations of xeroderma pigmentosum in two siblings.

Authors:  D C Thrush; G Holti; W G Bradley; M J Campbell; J N Walton
Journal:  J Neurol Sci       Date:  1974-05       Impact factor: 3.181

2.  Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.

Authors:  J H Robbins; K H Kraemer; M A Lutzner; B W Festoff; H G Coon
Journal:  Ann Intern Med       Date:  1974-02       Impact factor: 25.391

3.  Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.

Authors:  A Abdallat; S M Davis; J Farrage; W I McDonald
Journal:  J Neurol Neurosurg Psychiatry       Date:  1980-11       Impact factor: 10.154

4.  Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome.

Authors:  R M Stewart; G Tunell; A Ehle
Journal:  Neurology       Date:  1981-06       Impact factor: 9.910

  4 in total
  1 in total

1.  Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Authors:  A S Teebi; S Miller; H Ostrer; P Eydoux; C Colomb-Brockmann; K Oudjhane; G Watters
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

  1 in total

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