Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2)

A new case and review of the literature

Lorenzo Nanetti, Roberto Fancellu, Chiara Tomasello, Cinzia Gellera, Davide Pareyson, Caterina Mariotti

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

We report a rare association of spinocerebellar ataxia and motor neuron disease (MND) in a woman with genetically confirmed SCA2 who subsequently developed a rapidly progressive and fatal form of MND. Considering the rarity of these two neurological conditions, it is interesting to note that the concomitant occurrence of SCA mutations and MND have been previously observed in three cases: in one patient affected by SCA6 and two other cases with SCA2.

Original languageEnglish
Pages (from-to)1926-1928
Number of pages3
JournalJournal of Neurology
Volume256
Issue number11
DOIs
Publication statusPublished - Nov 2009

Fingerprint

Spinocerebellar Ataxias
Motor Neuron Disease
Mutation

Keywords

  • Amyotrophic lateral sclerosis (ALS)
  • Motor neuron disease (MND)
  • Spinocerebellar ataxia type 2 (SCA2)

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

@article{d3364e1e0946425cbe95a4392237898a,
title = "Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): A new case and review of the literature",
abstract = "We report a rare association of spinocerebellar ataxia and motor neuron disease (MND) in a woman with genetically confirmed SCA2 who subsequently developed a rapidly progressive and fatal form of MND. Considering the rarity of these two neurological conditions, it is interesting to note that the concomitant occurrence of SCA mutations and MND have been previously observed in three cases: in one patient affected by SCA6 and two other cases with SCA2.",
keywords = "Amyotrophic lateral sclerosis (ALS), Motor neuron disease (MND), Spinocerebellar ataxia type 2 (SCA2)",
author = "Lorenzo Nanetti and Roberto Fancellu and Chiara Tomasello and Cinzia Gellera and Davide Pareyson and Caterina Mariotti",
year = "2009",
month = "11",
doi = "10.1007/s00415-009-5237-9",
language = "English",
volume = "256",
pages = "1926--1928",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "11",

}

TY - JOUR

T1 - Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2)

T2 - A new case and review of the literature

AU - Nanetti, Lorenzo

AU - Fancellu, Roberto

AU - Tomasello, Chiara

AU - Gellera, Cinzia

AU - Pareyson, Davide

AU - Mariotti, Caterina

PY - 2009/11

Y1 - 2009/11

N2 - We report a rare association of spinocerebellar ataxia and motor neuron disease (MND) in a woman with genetically confirmed SCA2 who subsequently developed a rapidly progressive and fatal form of MND. Considering the rarity of these two neurological conditions, it is interesting to note that the concomitant occurrence of SCA mutations and MND have been previously observed in three cases: in one patient affected by SCA6 and two other cases with SCA2.

AB - We report a rare association of spinocerebellar ataxia and motor neuron disease (MND) in a woman with genetically confirmed SCA2 who subsequently developed a rapidly progressive and fatal form of MND. Considering the rarity of these two neurological conditions, it is interesting to note that the concomitant occurrence of SCA mutations and MND have been previously observed in three cases: in one patient affected by SCA6 and two other cases with SCA2.

KW - Amyotrophic lateral sclerosis (ALS)

KW - Motor neuron disease (MND)

KW - Spinocerebellar ataxia type 2 (SCA2)

UR - http://www.scopus.com/inward/record.url?scp=73449090497&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=73449090497&partnerID=8YFLogxK

U2 - 10.1007/s00415-009-5237-9

DO - 10.1007/s00415-009-5237-9

M3 - Article

VL - 256

SP - 1926

EP - 1928

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 11

ER -