Table 1.
Prevalence of Cognitive and Neuropsychiatric Findings 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)
| Disease | Executive Function | Global Cognition, Memory, MCI | Dementia | Language Deficits | Visuospatial processing deficits | Depression | Anxiety | Hallucinations/psychosis |
|---|---|---|---|---|---|---|---|---|
| FXTAS | Prominent (+) (Brega, 2008; Grigsby, 2007; Yang, 2013, 2014), severity increases with advancing age (Bacalman, 2006; Bourgeois, 2006, 2007; Seritan, 2008) | MCI can be present (+), relative sparing of memory encoding and recognition | 37–42% men (Seritan, 2008, 2013), unknown in women | Mild dysnomia (+) (Grigsby, 2006, 2008) | Present (+) (Grigsby, 2007, 2008) | 43.5% (Bourgeois, 2011) | 52% (Bourgeois, 2011) | Very rare (Seritan, 2013) |
| ET | Present but mild (+) (Benito-Leon, 2006; Lombardi, 2001; Sinoff, 2014; Troster, 2002) | Up to 69% in middle aged patients (mean age 56 years) (Sinoff, 2014) | Up to 33% (Sinoff, 2014) 70% higher than controls in late onset ET (> 65 years) (Romero, Benito-Leon, 2012) | Mild dysnomia (+) (Lombardi, 2001) | Present (+) (Sahin, 2006; Troster, 2002 | 18% (Sinoff, 2014) | 25% (Sinoff, 2014) | _ |
| PD | Present (+) (prevalence is included in the MCI category) | Up to 42.5% (Yarnall, 2014) | 46–82% (Williams-Gray, 2013; Hely, 2008) | 50% in those with MCI (Pfeiffer, 2014) | 46% in those with MCI (Pfeiffer, 2014); also present (+) in those with GBA or E326K polymorphism (Mata, 2014) | 37–70% (Aarsland, 1999, 2009; Goldman, 2014) | 20–49% (Gallagher, 2011) | 30–50 % hallucinations (Zhu, 2013) 27–40% psychosis (70% in those living >20 years post diagnosis) (Levin, 2015) |
| SCAs | Present (+) in SCA1, 2, 3, 8, 14, 19 (Burk, 2001, 2003; Hernandez-Castillo, 2015; Braga-Neto, 2012; Radvany, 1993; Zawacki, 2002; Lilja, 2005; Torrens, 2008; Klebe, 2005; Schelhaas, 2003) | Rare in SCA3 (Braga-Neto, Pedroso, 2012; Kawai, 2004; Maruff, 1996; Radvany,1993; Zawacki, 2002), Present (+) in DRPLA (late onset form) (Naito, 1982; Tsuji, 2012; Vale, 2010), SCA1 (Donato,2012), SCA2 (Durr, 1995), SCA17 (Koutsis, 2014; Toyoshima, 1993; Zuhlke, 2007) | Rare in SCA3 Braga-Neto, 2012; Kawai, 2004; Maruff, 1996; Radvany,1993; Zawacki, 2002), Present (+) in DRPLA (late onset form) (Naito, 1982; Tsuji, 2012; Vale, 2010), SCA1 (Donato, 2012), SCA2 (Durr, 1995), SCA17 (Koutsis, 2014; Toyoshima, 1993; Zuhlke, 2007) | Present(+) in SCA 6 (van Gaalen, 2014) | Present (+) in SCA1, 2, 3 (Braga-Neto, 2012; Braga-Neto, Pedroso, 2012; Fancellu, 2013; Feng, 2014; Kawai, 2004; Orsi, 2011) | 17–26% (Lo, 2016; Schmitz-Hubsch, 2011) | Variably present (+) in SCA 6 (Suenaga, 2008) and 8 (Torrens, 2008) | Rare |
| MSA | Up to 54% (Auzou, 2015; Siri, 2013) | Present (+) (Balas, 2010; Brown, 2010; Burk, 2006; Hong, 2011) Kim, 2013, 2015; Lyoo, 2008; Siri, 2013) | Up to 30% (Brown, 2010; Kitayama, 2009) | Present (+) in demented patients (Kao, 2009; Lyoo, 2008) | Present (+) in demented patients (Brown, 2010; Kim, 2013) | 30–85% (Benrud-Larson, 2005; Schrag, 2006, 2010; Siri, 2013) | 37% (Schrag, 2010) and appears more prevalent in MSA-C (Balas, 2010) | Rare (Williams, 2008) |
| PSP | Up to 70–90% (Brown, 2010; Gerstenecker, 2013; Kaat, 2011) | Present (+) (Respondek, 2015) | 58% (Pillon, 1991) | (−) (Magherini, 2005) | Present (+) (Borroni, 2008; Esmonde, 1996; Ghosh, 2013) | 50% higher than controls (Bloise, 2014; Esmonde, 1996; Gerstenecker, 2013) | 18% (Litvan, 1996) | 5–11% (Gerstenecker, 2013) |
Key:MCI, mild cognitive impairment; GBA, glucocerebrosidase gene mutation; E326K, polymorphism in the GBA gene; DRPLA, dentatorubral-pallidoluysian atrophy; (−) not seen or reported in the literature; (+) present but unknown prevalence; “Up to” refers to lifetime prevalence rates