CoChat
Sign Up
Cited by 120Neurological disorders and treatmentsGenetic Neurodegenerative DiseasesObsessive-Compulsive Spectrum Disorders

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Open access
Peall, Kathryn J., Smith, Daniel J., Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin +17 more·2013·Brain
DOI 10.1093/brain/aws308PMC PMC4052887
Open this paper in CoChat — free account

Abstract

Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. Previous studies have suggested that patients with SGCE mutations may have an increased rate of psychiatric disorders. We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determine the extent to which psychiatric disorders form part of the disease phenotype. In all, 89 patients with clinically suspected myoclonus dystonia syndrome were recruited from the UK and Ireland. SGCE was analysed using direct sequencing and for copy number variants. In those patients where no mutation was found TOR1A (GAG deletion), GCH1, THAP1 and NKX2-1 were also sequenced. SGCE mutation positive cases were systematically assessed using standardized psychiatric interviews and questionnaires and compared with a disability-matched control group of patients with alcohol responsive tremor. Nineteen (21%) probands had a SGCE mutation, five of which were novel. Recruitment of family members increased the affected SGCE mutation positive group to 27 of whom 21 (77%) had psychiatric symptoms. Obsessive-compulsive disorder was eight times more likely (P < 0.001) in mutation positive cases, compulsivity being the predominant feature (P < 0.001). Generalized anxiety disorder (P = 0.003) and alcohol dependence (P = 0.02) were five times more likely in mutation positive cases than tremor controls. SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype. SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1093/brain/aws308

Cites

76 of 76 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • A consistent psychiatric phenotype has been demonstrated across a number of cohorts, with up to 65.9% of individuals affected with symptoms including major depressive disorder and anxiety-related disorders.

    “A consistent psychiatric phenotype has been demonstrated across a number of cohorts, with up to 65.9% of individuals affected with symptoms including major depressive disorder and anxiety-related disorders [3–5].”

    From Internet-based cognitive behavioural therapy programme as an intervention for people diagnosed with adult-onset, focal, isolated, idiopathic cervical dystonia: A feasibility study protocol (2020) · cites this paper as [3]

    The Results (Stage two; page unavailable) report psychiatric disorders in 77.8% of manifesting SGCE mutation carriers, with elevated rates of generalized anxiety disorder and social phobia. The paper also reports differences in clinician-rated depressive symptoms, but it does not establish an elevated rate of major depressive disorder or give the claimed maximum of 65.9%; its reported rate exceeds that figure. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • Recognition of psychiatric comorbidity in dystonia is now well established, although guidelines and best practice for management remain to be established.

    “Recognition of psychiatric comorbidity in dystonia is now well established, although guidelines and best practice for management of these remain to be established [3–5].”

    From Internet-based cognitive behavioural therapy programme as an intervention for people diagnosed with adult-onset, focal, isolated, idiopathic cervical dystonia: A feasibility study protocol (2020) · cites this paper as [3]

    The Discussion and Conclusion identify psychiatric comorbidity in SGCE-related myoclonus dystonia and discuss evidence of it in other dystonias, supporting the recognition part of the claim. The Conclusion urges early, effective treatment, but neither it nor the passages found in searches for management guidance state that guidelines or best practice remain to be established. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

2 of the 78 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Related

Authors
Peall, K. J., Smith, D. J., Kurian, M. A., Wardle, M., Waite, A. J., Hedderly, T., Lin, J.-P., Smith, M., Whone, A., Pall, H., White, C., Lux, A., Jardine, P., Bajaj, N., Lynch, B., Kirov, G., O’Riordan, S., Samuel, M., Lynch, T., King, M. D., Chinnery, P. F., Warner, T. T., Blake, D. J., Owen, M. J., & Morris, H. R.
Affiliations
  • Cardiff University (GB)
  • Great Ormond Street Hospital (GB)
  • St Thomas' Hospital (GB)
  • Birmingham Children's Hospital (GB)
  • Frenchay Hospital (GB)
  • University of Birmingham (GB)
  • Singleton Hospital (GB)
  • Bristol Royal Hospital for Children (GB)
  • Nottingham University Hospitals NHS Trust (GB)
  • Temple Street Children's University Hospital (IE)
ORCID
Venue
Brain
Publisher
Oxford University Press (OUP)
Published
2013-01
Volume
136
Issue
1
Pages
294-303
ISSN
  • 0006-8950 (ISSN-L)
  • 1460-2156
DOI
10.1093/brain/aws308
PMC
PMC4052887
OpenAlex
W2032434406
Cited by
116
References
78
Citations by year
2026: 3 · 2025: 6 · 2024: 17 · 2023: 5 · 2022: 11 · 2021: 5 · 2020: 8 · 2019: 4 · 2018: 6 · 2017: 10 · 2016: 15 · 2015: 11 · 2014: 7 · 2013: 7
FWCI
8.47
Type
journal article
Language
en
Open access
Locations
  • Brain (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
  • Research Portal (King's College London) (submittedVersion, other-oa)
  • Explore Bristol Research (submittedVersion)
  • Bristol Research (University of Bristol) (submittedVersion)
  • Newcastle University ePrints (Newcastle Univesity)
Funders
  • Wellcome Trust (096919, 101876/B/13/Z, 101876, 084980)
  • National Institute for Health and Care Research (newbrc_2012_1, NF-SI-0509-10011)
  • Parkinson's UK (G-0618)
  • Medical Research Council (MR/K000608/1)
Topics
  • Health Sciences › Medicine › Neurology › Neurological disorders and treatments
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
  • Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
Keywords
myoclonus-dystonia syndrome, psychiatric comorbidity, obsessive-compulsive disorder, compulsivity, generalized anxiety disorder, alcoholism, copy number variation, pleiotropy, TOR1A, GTP cyclohydrolase I, THAP1, TTF-1, novel mutations
MeSH terms
Adolescent, Adult, Aged, Alcoholism, Anxiety Disorders, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Mutation, Myoclonus, Obsessive-Compulsive Disorder, Phenotype, Quality of Life, Genetic Predisposition to Disease, Dystonic Disorders, Sarcoglycans

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review