Literature DB >> 1512613

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy.

A Filla1, G De Michele, R Marconi, L Bucci, C Carillo, A E Castellano, L Iorio, C Kniahynicki, F Rossi, G Campanella.   

Abstract

An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10(-5) inhabitants (95% confidence limits 4.8-11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia.

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Year:  1992        PMID: 1512613     DOI: 10.1007/bf00867594

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  10 in total

1.  Hereditary ataxias. Occurrence and clinical features.

Authors:  L Werdelin
Journal:  Acta Neurol Scand Suppl       Date:  1986

2.  Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy.

Authors:  F Brignolio; M Leone; A Tribolo; M G Rosso; P Meineri; D Schiffer
Journal:  Ital J Neurol Sci       Date:  1986-08

3.  Friedreich's ataxia: a descriptive epidemiological study in an Italian population.

Authors:  M Leone; F Brignolio; M G Rosso; E S Curtoni; A Moroni; A Tribolo; D Schiffer
Journal:  Clin Genet       Date:  1990-09       Impact factor: 4.438

4.  Friedreich's ataxia in the south of Italy: a clinical and biochemical survey of 23 patients.

Authors:  G Campanella; A Filla; F DeFalco; D Mansi; A Durivage; A Barbeau
Journal:  Can J Neurol Sci       Date:  1980-11       Impact factor: 2.104

5.  Intrafamilial correlation in Friedreich's ataxia.

Authors:  R M Winter; A E Harding; M Baraitser; M B Bravery
Journal:  Clin Genet       Date:  1981-12       Impact factor: 4.438

6.  Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.

Authors:  A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-06       Impact factor: 10.154

7.  Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

Authors:  J M Polo; J Calleja; O Combarros; J Berciano
Journal:  Brain       Date:  1991-04       Impact factor: 13.501

8.  Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients.

Authors:  A Filla; G DeMichele; G Caruso; R Marconi; G Campanella
Journal:  J Neurol       Date:  1990-10       Impact factor: 4.849

9.  Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

Authors:  G Romeo; P Menozzi; A Ferlini; S Fadda; S Di Donato; G Uziel; B Lucci; L Capodaglio; A Filla; G Campanella
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

10.  Prevalence and pattern of spinocerebellar degenerations in northeastern Libya.

Authors:  R Sridharan; K Radhakrishnan; P P Ashok; M E Mousa
Journal:  Brain       Date:  1985-12       Impact factor: 13.501

  10 in total
  27 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

2.  The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

Authors:  P McMonagle; S Webb; M Hutchinson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-01       Impact factor: 10.154

3.  New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

Authors:  Antonella Monticelli; Manuela Giacchetti; Irene De Biase; Luigi Pianese; Mimmo Turano; Massimo Pandolfo; Sergio Cocozza
Journal:  Hum Genet       Date:  2004-02-07       Impact factor: 4.132

Review 4.  Friedreich ataxia: an overview.

Authors:  M B Delatycki; R Williamson; S M Forrest
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 5.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

6.  Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development.

Authors:  R Mark Payne; P Melanie Pride; Clifford M Babbey
Journal:  Pediatr Cardiol       Date:  2011-03-01       Impact factor: 1.655

7.  Structural basis for conformational switching and GTP loading of the large G protein atlastin.

Authors:  Laura J Byrnes; Avtar Singh; Kylan Szeto; Nicole M Benvin; John P O'Donnell; Warren R Zipfel; Holger Sondermann
Journal:  EMBO J       Date:  2013-01-18       Impact factor: 11.598

8.  A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.

Authors:  Piyush M Vyas; Wendy J Tomamichel; P Melanie Pride; Clifford M Babbey; Qiujuan Wang; Jennifer Mercier; Elizabeth M Martin; R Mark Payne
Journal:  Hum Mol Genet       Date:  2011-11-23       Impact factor: 6.150

9.  Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Authors:  Mark Braschinsky; Riin Tamm; Christian Beetz; Elena Sachez-Ferrero; Elve Raukas; Siiri-Merike Lüüs; Katrin Gross-Paju; Catherine Boillot; Federico Canzian; Andres Metspalu; Sulev Haldre
Journal:  BMC Neurol       Date:  2010-03-09       Impact factor: 2.474

Review 10.  The fragile-X premutation: a maturing perspective.

Authors:  Paul J Hagerman; Randi J Hagerman
Journal:  Am J Hum Genet       Date:  2004-03-29       Impact factor: 11.025

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