Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jun;70(6):746-55.
doi: 10.1001/jamaneurol.2013.1707.

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

Paula Coutinho  1 , Luis Ruano, José L Loureiro, Vitor T Cruz, José Barros, Assunção Tuna, Clara Barbot, João Guimarães, Isabel Alonso, Isabel Silveira, Jorge Sequeiros, José Marques Neves, Pedro Serrano, M Carolina Silva
Affiliations

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

Paula Coutinho et al. JAMA Neurol. 2013 Jun.

Abstract

Importance: Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce.

Objective: To present the prevalence and distribution of HCA and HSP in Portugal.

Design and setting: Population-based, nationwide, systematic survey, from January 1, 1994, through April 15, 2004, in Portugal.

Participants: Multiple sources of information were used (review of clinical files, active collaboration of neurologists and geneticists, and investigation of affected families), but the main source was active collaboration of general practitioners. Patients were examined by the same team of neurologists, using homogeneous inclusion criteria. The clinical data were registered, and all families were genetically tested.

Results: Overall, 1336 patients from a population of 10,322 million were diagnosed as having HCA or HSP, a prevalence of 12.9 per 100,000 population. Hereditary cerebellar ataxia was more prevalent (prevalence, 8.9 per 100,000 population; 5.6 for dominant and 3.3 for recessive ataxias) than HSP (prevalence, 4.1 per 100,000 population; 2.4 for dominant and 1.6 for recessive). Machado-Joseph disease (spinocerebellar ataxia type 3) (prevalence, 3.1 per 100,000 population), Friedreich ataxia (prevalence, 1.0 per 100,000 population), and ataxia with oculomotor apraxia (prevalence, 0.4 per 100,000 population) were the most frequent HCAs. Spastic paraplegia types 4 (prevalence, 0.91 per 100,000 population), 3 (prevalence, 0.14 per 100,000 population), and 11 (prevalence, 0.26 per 100,000 population) were the most prevalent HSPs.

Conclusions and relevance: This population-based survey covered all the Portuguese territory and mobilized most general practitioners and health centers. To our best knowledge, this survey was the largest ever performed for HCA and HSP. Prevalence of autosomal dominant ataxias was high, particularly for Machado-Joseph disease (spinocerebellar ataxia type 3). The genetic cause has not been identified in 39.7% of the patients studied.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
    Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
  • Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias.
    Afonso-Reis R, Afonso IT, Nóbrega C. Afonso-Reis R, et al. Int J Mol Sci. 2021 Apr 19;22(8):4249. doi: 10.3390/ijms22084249. Int J Mol Sci. 2021. PMID: 33921915 Free PMC article. Review.
  • Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey.
    Ono H, Shimizu-Motohashi Y, Maruo K, Takeshita E, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sasaki M. Ono H, et al. Brain Behav. 2019 Oct;9(10):e01392. doi: 10.1002/brb3.1392. Epub 2019 Aug 30. Brain Behav. 2019. PMID: 31469254 Free PMC article.
  • Epidemiology of Spinocerebellar Ataxias in Europe.
    De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chiò A, Vasta R. De Mattei F, et al. Cerebellum. 2024 Jun;23(3):1176-1183. doi: 10.1007/s12311-023-01600-x. Epub 2023 Sep 12. Cerebellum. 2024. PMID: 37698771 Free PMC article.
  • Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.
    Velázquez-Pérez L, Medrano-Montero J, Rodríguez-Labrada R, Canales-Ochoa N, Campins Alí J, Carrillo Rodes FJ, Rodríguez Graña T, Hernández Oliver MO, Aguilera Rodríguez R, Domínguez Barrios Y, Torres Vega R, Flores Angulo L, Cordero Navarro NY, Sigler Villanueva AA, Gámez Rodríguez O, Sagaró Zambrano I, Navas Napóles NY, García Zacarías J, Serrano Barrera OR, Ramírez Bautista MB, Estupiñán Rodríguez A, Guerra Rondón LA, Vázquez-Mojena Y, González-Zaldivar Y, Almaguer Mederos LE, Leyva-Mérida A; Cuban Hereditary Ataxias Network. Velázquez-Pérez L, et al. Cerebellum. 2020 Apr;19(2):252-264. doi: 10.1007/s12311-020-01107-9. Cerebellum. 2020. PMID: 31981095
See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources