Literature DB >> 7401132

Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.

P S Harper, R Marks, P J Dykes, I D Young.   

Abstract

A sibship is described in which at least two brothers suffer from a unique disorder characterised by ichthyosis, hepatosplenomegaly, and late onset cerebellar ataxia. The clinical features and investigations are described. No metabolic abnormality has been found so far.

Entities:  

Mesh：

Year:  1980        PMID： 7401132      PMCID： PMC1048549          DOI： 10.1136/jmg.17.3.212

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  On familial ataxia, neural amyotrophy, and their association with progressive external ophthalmoplegia.

Authors:  J STEPHENS; M L HOOVER; J DENST
Journal:  Brain       Date:  1958-12       Impact factor: 13.501

2.  Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.

Authors:  T SJOGREN; T LARSSON
Journal:  Acta Psychiatr Neurol Scand Suppl       Date:  1957

3.  Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.

Authors:  D N BARON; C E DENT; H HARRIS; E W HART; J B JEPSON
Journal:  Lancet       Date:  1956-09-01       Impact factor: 79.321

4.  Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome.

Authors:  J H Passwell; R M Goodman; M Ziprkowski; B E Cohen
Journal:  Clin Genet       Date:  1975-07       Impact factor: 4.438

5.  Adult-onset hereditary cerebellar ataxia and neurosensory deafness.

Authors:  R N Schimke
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

Review 6.  The olivopontocerebellar atrophies: a review.

Authors:  B W Konigsmark; L P Weiner
Journal:  Medicine (Baltimore)       Date:  1970-05       Impact factor: 1.889

7.  Erythrokeratodermia with ataxia.

Authors:  J M Giroux; A Barbeau
Journal:  Arch Dermatol       Date:  1972-08

8.  Enzymatic basis of typical X-linked icthyosis.

Authors:  L J Shapiro; R Weiss; M M Buxman; J Vidgoff; R L Dimond; J A Roller; R S Wells
Journal:  Lancet       Date:  1978-10-07       Impact factor: 79.321

9.  A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration.

Authors:  P J Dykes; R Marks; P S Harper
Journal:  Br J Dermatol       Date:  1979-05       Impact factor: 9.302

10.  A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.

Authors:  B G Neville; B D Lake; R Stephens; M D Sanders
Journal:  Brain       Date:  1973       Impact factor: 13.501
  10 in total
  1 in total

1.  Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

Authors:  Lekbir Baala; Smaïl Hadj-Rabia; Dominique Hamel-Teillac; Michelle Hadchouel; Catherine Prost; Suzanne M Leal; Emmanuel Jacquemin; Abdelaziz Sefiani; Yves De Prost; Gilles Courtois; Arnold Munnich; Stanislas Lyonnet; Pierre Vabres
Journal:  J Invest Dermatol       Date:  2002-07       Impact factor: 8.551
  1 in total

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