FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Seixas, Ana I.; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana M.; Pinto-Basto, Jorge; Coutinho, Paula; Margolis, Russell L.; Sequeiros, Jorge; Silveira, Isabel

doi:10.1186/1744-9081-7-19

Table 2 Frequency of FMR1 premutations among male patients with adult-onset movement disorders

From: FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Sample origin	Ascertainment via	Inclusion criteria	Premutation rate	Study
United Kingdom	Referral for genetic test of SCA	Ataxia	2/59	(Macpherson et al., 2003) [23]
USA	Clinical diagnosis of ET	ET	0/40	(Garcia Arocena et al., 2004) [24]
USA	Clinical diagnosis of MSA	MSA	0/40	(Garland et al., 2004) [25]
USA	Referral for genetic test of SCA	Ataxia; age > 50	1/167	(Milunsky and Maher 2004) [26]
Singapore	Clinical diagnosis of movement disorder	ET; age > 45	0/34	(Tan et al., 2004) [27]
		Ataxia; isolated	0/30
		MSA	0/12
		APD	0/15
Japan	Clinical diagnosis of MSA	MSA	0/36	(Yabe et al., 2004) [28]
Germany	Referral for genetic test of SCA	Ataxia; AOO > 50	0/269	(Zuhlke et al., 2004) [29]
Europe (mixed)	Clinical diagnosis of MSA or related	MSA	0/76	(Biancalana et al., 2005) [30]
		Ataxia	1/19
Italy	Clinical diagnosis of SCA	Ataxia	6/275	(Brussino et al., 2005) [31]
Europe (mixed)	Clinical diagnosis of MSA	MSA*	2/253	(Kamm et al., 2005) [32]
USA	Referral for genetic test of SCA and HD	Cerebellar disease	1/73	(Seixas et al., 2005) [18]
		Basal ganglia disease	0/6
Mixed	Clinical diagnosis of PD	PD	0/414	(Toft et al., 2005) [33]
Belgium	Referral for genetic test of SCA	Ataxia; age > 50	5/122	(Van Esch et al., 2005) [34]
Spain	Clinical diagnosis of SCA	Ataxia; isolated; age > 45	1/87	(Rodriguez-Revenga et al., 2007) [35]
USA	Referral for genetic test of SCA	Ataxia; age > 50	1/286	(Adams et al., 2008) [17]
Poland	Clinical diagnosis of SCA	Ataxia; age > 50	1/178	(Rajkiewicz et al., 2008) [36]
Brazil	Clinical diagnosis of movement disorder	Ataxia, and/or tremor, and/or parkinsonism; age > 45	0/66	(Reis et al., 2008) [37]
Spain	Referral for genetic test of HD	HD	1/95	(Rodriguez-Revenga et al., 2008) [38]
United Kingdom	Clinical diagnosis of SCA	Ataxia	0/105	(Wardle et al., 2009) [39]
Portugal	Referral for genetic test of SCA, HD, and PD	Ataxia; isolated; AOO > 50	1/54	This study
		Tremor or cognitive decline	0/32
Total of ataxia referrals			20/1724
Total of movement disorder referrals (other than ataxia)			3/1119

SCA, spinocerebellar ataxia; ET, essential tremor; MSA, multisystem atrophy; PD, Parkinson disease; APD, atypical Parkinson disease; AOO, age of onset. *Includes proven, possible, and probable MSA

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ISSN: 1744-9081

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