Literature DB >> 6452193

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

G Campanella, A Filla, F DeFalco, D Mansi, A Durivage, A Barbeau.   

Abstract

We report a clinical and biochemical survey of 23 patients with Friedreich's ataxia from southern Italy. They were studied clinically and by means of a clinical rating scale devised by us (Inherited Ataxias Clinical Rating Scale). Laboratory tests, based on the Quebec Cooperative Study, were also performed on our patients. No major clinical or biochemical differences were found between Italian and Canadian patients. Investigation of CSF monoamine metabolites showed that HVA decreased after probenecid and metoclopramide loading.

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Year:  1980        PMID： 6452193     DOI： 10.1017/s0317167100022873

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


  14 in total

1.  Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.

Authors:  A Filla; G De Michele; F Cavalcanti; A Perretti; L Santoro; F Barbieri; G D'Arienzo; G Campanella
Journal:  J Neurol Neurosurg Psychiatry       Date:  1990-08       Impact factor: 10.154

2.  Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Authors:  M Cossée; M Schmitt; V Campuzano; L Reutenauer; C Moutou; J L Mandel; M Koenig
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-08       Impact factor: 11.205

3.  Late onset recessive ataxia with Friedreich's disease phenotype.

Authors:  G De Michele; A Filla; F Barbieri; A Perretti; L Santoro; L Trombetta; F Santorelli; G Campanella
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-12       Impact factor: 10.154

4.  Brainstem auditory-evoked responses and clinical picture in a one year follow-up of 18 patients with Friedreich ataxia.

Authors:  G Finocchiaro; A Formenti; F Baiocco; S Di Donato
Journal:  Ital J Neurol Sci       Date:  1985-03

5.  Evoked potentials in inherited ataxias: a multimodal electrophysiological study.

Authors:  B Lanzillo; A Perretti; L Santoro; L Pelosi; A Filla; G De Michele; G Caruso
Journal:  Ital J Neurol Sci       Date:  1994-02

6.  The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

Authors:  A Hanauer; M Chery; R Fujita; A J Driesel; S Gilgenkrantz; J L Mandel
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

7.  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

8.  Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria.

Authors:  A Filla; G De Michele; F Cavalcanti; F Santorelli; L Santoro; G Campanella
Journal:  J Neurol       Date:  1991-06       Impact factor: 4.849

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

Authors:  A Filla; G De Michele; R Marconi; L Bucci; C Carillo; A E Castellano; L Iorio; C Kniahynicki; F Rossi; G Campanella
Journal:  J Neurol       Date:  1992-07       Impact factor: 4.849

10.  Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

Authors:  Jon Infante; Antonio García; Karla M Serrano-Cárdenas; Rocío González-Aguado; José Gazulla; Enrique M de Lucas; José Berciano
Journal:  J Neurol       Date:  2018-04-25       Impact factor: 4.849
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