Literature DB >> 7441281

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

A Abdallat, S M Davis, J Farrage, W I McDonald.   

Abstract

Three siblings in a Jordanian family presented with a distinctive syndrome consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. Sural nerve biopsy revealed axonal degeneration and skin biopsy showed abnormal epidermal pigmentation. Skin fibroblast repair studies were normal. No underlying biochemical defect has been found in this previously undescribed neurocutaneous syndrome.

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Mesh：

Year:  1980        PMID： 7441281      PMCID： PMC490745          DOI： 10.1136/jnnp.43.11.962

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


  6 in total

1.  A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

2.  The Chediak-Higashi syndrome: studies of host defenses.

Authors:  S M Wolff
Journal:  Ann Intern Med       Date:  1972-02       Impact factor: 25.391

3.  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

4.  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

5.  A new oculocerebral syndrome with hypopigmentation.

Authors:  H E Cross; V A McKusick; W Breen
Journal:  J Pediatr       Date:  1967-03       Impact factor: 4.406

6.  Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.

Authors:  S A Pawsey; I A Magnus; C A Ramsay; P F Benson; F Giannelli
Journal:  Q J Med       Date:  1979-04
  6 in total
  7 in total

1.  Familial spinocerebellar ataxia with skin hyperpigmentation.

Authors:  M Daras; A J Tuchman; S David
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-08       Impact factor: 10.154

2.  Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature.

Authors:  F Gemignani; D Guidetti; P Bizzi; P Preda; G Cenacchi; A Marbini
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

3.  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

4.  A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

Authors:  Pascale Ribai; Giovanni Stevanin; Naima Bouslam; Bénédicte Pontier; Isabelle Nelson; Bertrand Fontaine; Christel Dussert; Céline Charon; Alexandra Durr; Alexis Brice
Journal:  J Neurol       Date:  2006-03-06       Impact factor: 4.849

5.  Amelioration of Auditory Response by DA9801 in Diabetic Mouse.

Authors:  Yeong Ro Lee; Bin Na Hong; You Ri Her; Rodrigo Castañeda; Hyo Won Moon; Tong Ho Kang
Journal:  Evid Based Complement Alternat Med       Date:  2015-03-24       Impact factor: 2.629

6.  Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Authors:  John Y W Lee; Chao-Kai Hsu; Magdalene Michael; Arti Nanda; Lu Liu; James R McMillan; Celine Pourreyron; Takuya Takeichi; Jakub Tolar; Evan Reid; Thomas Hayday; Sergiu C Blumen; Saif Abu-Mouch; Rachel Straussberg; Lina Basel-Vanagaite; Yael Barhum; Yasmin Zouabi; Hejab Al-Ajmi; Hsin-Yu Huang; Ting-Chien Lin; Masashi Akiyama; Julia Y Y Lee; W H Irwin McLean; Michael A Simpson; Maddy Parsons; John A McGrath
Journal:  Am J Hum Genet       Date:  2017-02-02       Impact factor: 11.025

7.  Whole Transcriptome Analysis (RNA Sequencing) of Peripheral Blood Mononuclear Cells of Vitiligo Patients.

Authors:  E Reimann; K Kingo; M Karelson; P Reemann; E Vasar; H Silm; S Kõks
Journal:  Dermatopathology (Basel)       Date:  2014-01-09
  7 in total

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