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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  
  1. 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