Literature DB >> 20424878

A case of neurofibromatosis and multiple sclerosis.

Gabriella Spinicci1, Maria Valeria Cherchi, Raffaele Murru, Maria Conti, Maria Giovanna Marrosu.   

Abstract

Neurofibromatosis 1 (NF1), also called von Recklinghausen disease or peripheral NF, is a common autosomal-dominant neurocutaneous disorder associated with mutations of the NF 1 gene. The pathogenesis is poorly understood and the disease is characterized by cafè-au-lait spots, neurofibromatous tumors of the skin, Lisch nodules of the iris and many pleiotropic manifestations. The gene responsible for the disorder has been isolated on chromosome 17q11.2. The association of multiple sclerosis with NF is rarely reported in literature. We describe a patient with NF1, who subsequently developed relapsing-remitting multiple sclerosis.

Entities:  

Mesh:

Year:  2010        PMID: 20424878     DOI: 10.1007/s10072-010-0252-2

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  14 in total

Review 1.  The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

Authors:  D H Gutmann; A Aylsworth; J C Carey; B Korf; J Marks; R E Pyeritz; A Rubenstein; D Viskochil
Journal:  JAMA       Date:  1997-07-02       Impact factor: 56.272

2.  The neurofibromatosis type 1 gene encodes a protein related to GAP.

Authors:  G F Xu; P O'Connell; D Viskochil; R Cawthon; M Robertson; M Culver; D Dunn; J Stevens; R Gesteland; R White
Journal:  Cell       Date:  1990-08-10       Impact factor: 41.582

3.  Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

Authors: 
Journal:  Arch Neurol       Date:  1988-05

4.  Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Authors:  D Viskochil; A M Buchberg; G Xu; R M Cawthon; J Stevens; R K Wolff; M Culver; J C Carey; N G Copeland; N A Jenkins
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

5.  Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis.

Authors:  M R Johnson; R E Ferner; M Bobrow; R A Hughes
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-05       Impact factor: 10.154

6.  Single strand conformation analysis of two genes contained within the first intron of the neurofibromatosis type I gene in patients with multiple sclerosis.

Authors:  L J Hinks; S E Price; C R Mason; R J Thompson
Journal:  Neuropathol Appl Neurobiol       Date:  1995-06       Impact factor: 8.090

7.  The range of multiple sclerosis associated with neurofibromatosis type 1.

Authors:  P Perini; P Gallo
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-11       Impact factor: 10.154

8.  Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain.

Authors:  D P DiPaolo; R A Zimmerman; L B Rorke; E H Zackai; L T Bilaniuk; A T Yachnis
Journal:  Radiology       Date:  1995-06       Impact factor: 11.105

9.  Intellectual impairment in neurofibromatosis 1.

Authors:  R E Ferner; R A Hughes; J Weinman
Journal:  J Neurol Sci       Date:  1996-06       Impact factor: 3.181

10.  Neurofibromatosis 1 and multiple sclerosis.

Authors:  R E Ferner; R A Hughes; M R Johnson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-05       Impact factor: 10.154

View more
  5 in total

1.  Symptomatic paroxysmal kinesigenic choreoathetosis as primary manifestation of multiple sclerosis.

Authors:  Simone Zittel; Maxim Bester; Christian Gerloff; Alexander Münchau; Frank Leypoldt
Journal:  J Neurol       Date:  2011-07-30       Impact factor: 4.849

2.  An histologically atypical NF-type 1 patient with a new pathogenic mutation.

Authors:  Giovanni Bianco; Giuseppe Greco; Manila Antonelli; Stefania Casali; Cinzia Castagnini
Journal:  Neurol Sci       Date:  2012-01-06       Impact factor: 3.307

3.  Relapsing Remitting Multiple Sclerosis in an Iranian Patient with Neurofibromatosis Type I.

Authors:  Nafiseh Mohebi; Mehdi Moghaddasi; Zaribafian Maryam
Journal:  Neurol Int       Date:  2015-09-24

4.  Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis.

Authors:  Chinwe C Madubata; Margaret A Olsen; Dustin L Stwalley; David H Gutmann; Kimberly J Johnson
Journal:  Genet Med       Date:  2014-06-05       Impact factor: 8.822

5.  Primary Progressive Multiple Sclerosis in a Portuguese Patient With Neurofibromatosis Type 1.

Authors:  Inês Carvalho; Miguel Quintas-Neves; Joana Pinto; Ana Filipa Santos; João Pereira
Journal:  Cureus       Date:  2021-12-21
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.