Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery

Allen, Emily G.; Juncos, Jorge L.; Letz, Richard; Rusin, Michele; Hamilton, Debra; Novak, Gloria; Shubeck, Lisa; Tinker, Stuart W.; Sherman, Stephanie L.

doi:10.1136/jmg.2007.054676

Cited by 29 publications

(27 citation statements)

References 22 publications

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“…This may be an indicator for a specific female subtype of impairment. A study by Loesch (2015) showed a relationship of severity of psychiatric symptoms in female premutation carriers dependent on a non-linear effect of CGG repeat size within the premutation range, similar to the severity of FXPOI symptoms (Allen et al, 2008; Hunsaker et al, 2011; Sullivan et al, 2005) and previous reports of psychopathology in female carriers (Roberts et al, 2009; Seltzer, Barker, et al, 2012). The mid-range CGG repeat size is associated with an increased severity of symptoms in these studies.…”

Section: Discussionsupporting

confidence: 68%

Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation

Schneider

Johnston

Tassone

et al. 2016

The Clinical Neuropsychologist

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Objective Clinical observations and a limited number of research studies provide evidence that the fragile X premutation may confer risk for autism, executive dysfunction, and psychopathology. The link to autism spectrum symptoms and social cognition deficits with the premutation remains uncertain, and thus was the focus of the present investigation. Method Our sample included 131 individuals, 42 men/22 women with the FMR1 premutation (mean age = 31.83 ± 8.59 years) with a normal neurological exam, and 48 men/19 women healthy age matched controls (mean age = 29.48 ± 7.29 years). Individuals completed a comprehensive neuropsychological battery with additional assessments for social cognition, broad autism spectrum, and obsessive-compulsive (OC) symptoms. Results Premutation carriers self-reported higher rates of autism-related symptoms (Autism Quotient; p=.001). Among males only, premutation carriers showed more atypical social interaction (p<.001) and stereotyped behavior (p=.014) during standardized clinical examination on the Autism Diagnostic Observation Schedule (ADOS) relative to controls. Female premutation carriers reported significantly higher rates of OC symptoms compared to control females (p=.012). Molecular measures defining the expanded premutation (FMR1 CGG repeat length and/or mRNA) were significantly associated with a measure of theory of mind (Reading the Mind in the Eyes Task). Conclusions The results of this study indicate a higher rate of broad autism spectrum symptoms in some males with the premutation and provide evidence for an obsessive-compulsive subtype in female premutation carriers.

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Section: Discussionsupporting

confidence: 68%

Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation

Schneider

Johnston

Tassone

et al. 2016

The Clinical Neuropsychologist

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“…66 CATSYS was selected as it had been previously used in premutation carriers; also, a recent study showed CATSYS measurements to be associated with clinician-rated UPDRS items assessing tremor and bradykinesia. 53,54,67 Future studies could include UPDRS in the protocol, to complement the CATSYS.…”

Section: Discussionmentioning

confidence: 99%

“…42 CATSYS has been previously used in premutation carriers. 53,54 The SCID was customized prior to initiating this study to include the modules for mood, anxiety, substance use, somatoform and adjustment disorders and the screening questions for psychotic symptoms. Additionally, dementia and cognitive disorder not otherwise specified (NOS) were diagnosed through interview according to the DSM-IV TR criteria.…”

Section: Methodsmentioning

confidence: 99%

Memantine for Fragile X–Associated Tremor/Ataxia Syndrome

Seritan¹,

Nguyen²,

Mu³

et al. 2013

J. Clin. Psychiatry

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Objective Memantine, an NMDA receptor uncompetitive antagonist, is currently approved by the Food and Drug Administration for the treatment of moderate to severe Alzheimer’s disease. Anecdotal reports have suggested that memantine may improve neurological and cognitive symptoms of individuals with the neurodegenerative disease, fragile X-associated tremor tremor/ataxia syndrome (FXTAS); however, its efficacy and safety in this population have not been assessed in a controlled trial. Method A randomized, double-blind, placebo-controlled, one-year trial in individuals with FXTAS ages 34–80 years. Primary outcome measures were the Behavioral Dyscontrol Scale (BDS) score and CATSYS intention tremor severity. Results Ninety-four participants were randomized from 205 screened; of those, 43 and 45 started memantine (titrated to 10 mg twice daily) and placebo, respectively. Thirty-four participants on memantine and 36 on placebo completed the one-year endpoint assessment (n=70). Intention-to-treat analysis showed that there was no improvement with respect to intention tremor severity (memantine vs. placebo: 1.05 ± 0.73 vs. 1.89 ± 2.19, p=0.047) and BDS score (16.12 ± 5.43 vs. 15.72 ± 3.93, p=0.727) at follow-up. Post hoc analyses of participants with early FXTAS (stage ≤ 3), late FXTAS (stage > 3) and different age groups (≤ 65 years and > 65 years) also indicated no significant improvement. More frequent mild adverse events (AEs) were observed in the placebo group, while more frequent moderate AEs occurred in the memantine group (p=0.007). Conclusion This randomized, double-blind, placebo-controlled trial of memantine for individuals with FXTAS showed no benefit with respect to the selected outcome measures compared to placebo.

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“…The Coordination-Tremor-Balance Test System was used to assess SC’s tremor and balance (Table 1). 12,13 SC showed impairment in the tremor and maximum frequency assessments. 14 She also showed significant balance problems, falling within the higher range of the FXTAS group for the sway task.…”

Section: Case Reportmentioning

confidence: 89%

Improving Fragile X-Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine

Ortigas

Bourgeois

Schneider

et al. 2010

Journal of Clinical Psychopharmacology

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Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery

Abstract: Background-Carriers of the FMR1 premutation allele are at a significantly increased risk for a

Cited by 29 publications

References 22 publications

Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation

Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation

Memantine for Fragile X–Associated Tremor/Ataxia Syndrome

Improving Fragile X-Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine

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