Table 2.
Prevalence of Motor Phenotypes in fragile X-associated tremor/ataxia syndrome (FXTAS), Essential Tremor (ET), Parkinson Disease (PD), Spinocerebellar Ataxias (SCAs), Multiple System Atrophy (MSA), and Progressive Supranuclear Palsy (PSP)
| Movement Disorder | Tremor | Cerebellar Ataxia | Parkinsonism | Eye Movement Abnormalities |
|---|---|---|---|---|
| FXTAS | 77% (men, mean age 65 ± 7) (Juncos, 2011) + Kinetic > rest tremor (Berry-Kravis, 2007) Hands >> head (Apartis 2012; Leehey, 2003; Peters, 2006) |
41–66% (men, mean age 65 ± 7; men and women, 66.6 ± 8.2) (Juncos, 2011; Niu, 2014) | 29–32% (men and women, mean age 66.6 ± 8.2; men, 65 ± 7) (Niu, 2014; Juncos, 2011) | May be present (+) |
| ET | Kinetic: 25–98% (mean ages 62.5 ± 14.6; 66.90 ± 12.35) (Deuschl, 2000; Ghika, 2015) Intention: 33–89% (mean ages 62.5 ± 14.6; 66.90 ± 12.35) (Deuschl, 2000; Ghika, 2015) Postural: 80% (mean age 66.90 ± 12.35) (Ghika, 2015) Rest: 1.9–46.4% (may emerge with advanced disease) (Louis, 2015) Hands >> head > voice (Jankovic, 2002; Deuschl, 2009) |
50% - Mild (mean age 69) (Singer, 1994) | 64% Typical (median age 65) (Jankovic, 1995) | 35–41% (mean ages 54.2 ± 4.1; 27.6 ± 17.3 years) (Schwartz, 1999; Helmchen, 2003) |
| PD | ++ Rest 38.9% TD (58.4 ± 10.9) (Wu, 2015) | − | ++ | Present (+) (Antoniades, 2015; Crawford, 1989; Shibasaki, 1979) (Age range 49–69) |
| SCAs | Postural and Intention present (+) in SCA 2, 12, 15, 20, 27 (Perlman, 2011; Storey, 2014) | ++ but may or may not be seen in SCA 17 and DRPLA (Matilla-Dueñas, 2012; Perlman, 2011; Storey, 2014) | Present (+) in SCA 2, 3, 17, 21 (Park, 2015; Perlman, 2011; Storey, 2014) | Present (+) in SCA 1, 2, 3, 5, 6, 7, 8, 14, 28, 37 (Storey, 2014) |
| MSA | MSA-P: Rest- Up to 60% Postural- Up to 60% Intention- Up to 37% (Low, 2015) MSA-C: Rest- Up to 22% Postural- Up to 45% Intention- Up to 94% (Low, 2015) Overall: Up to 80% (Kaindlstorfer, 2013) |
MSA-P- Up to 40% MSA-C- Up to 100% (Low, 2015) |
MSA-P: Up to 98% MSA-C: Up to 73% (Low, 2015) |
Present (+) (MSA-C mean age 63.2 ± 7.1) (MSA-P mean age 60.7 ± 7.6) (Terao, 2016) |
| PSP | Up to 42% (Fujioka, 2016) | Rare (Kanazawa, 2009; Iwasaki, 2013; Koga, 2016; Kanazawa, 2013) | Up to 19% typical Parkinsonism Up to 40% atypical Parkinsonism (Respondek, 2015) |
++ (Liscic, 2013; Williams, 2005) |
Key:TD, tremor-dominant; DRPLA, dentatorubral-pallidoluysian atrophy; MSA-P, multiple system atrophy parkinsonism subtype; MSA-C, multiple system atrophy cerebellar subtype, (−) not seen or reported in the literature, (+) present but unknown prevalence, (++) required for diagnosis, “Up to” refers to lifetime prevalence rates