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