C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder

Karissa C. Arthur, Alberto M. Rivera, Jack Samuels, Ying Wang, Marcos Grados, Fernando S. Goes, Brion Maher, Gerald Nestadt, Bryan J. Traynor

Research output: Contribution to journalArticle

Abstract

Obsessive-compulsive disorder (OCD) is a polygenic neuropsychiatric disorder characterized by repetitive thoughts and behaviors that cause distress. The pathogenic repeat expansion [GGGGCC]n found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. Furthermore, obsessions and compulsions have been identified in patients diagnosed with ALS and/or FTD and carrying the pathogenic repeat expansion. Here, we performed genetic screening for the C9orf72 repeat expansion on 573 patients diagnosed with OCD. None of the patients were found to carry the expansion. The results show that patients with OCD do not commonly carry the pathogenic repeat expansion and therefore should not be routinely screened. OCD and psychotic patients who do test positive for the C9orf72, however, should be closely observed for the later development of FTD and ALS.

Original languageEnglish (US)
Pages (from-to)71-72
Number of pages2
JournalJournal of the Neurological Sciences
Volume375
DOIs
StatePublished - Apr 15 2017

Fingerprint

Obsessive-Compulsive Disorder
Frontotemporal Dementia
Amyotrophic Lateral Sclerosis
Obsessive Behavior
Genetic Testing
Psychotic Disorders
Schizophrenia

Keywords

  • Amyotrophic lateral sclerosis
  • C9orf72
  • Frontotemporal dementia
  • Obsessive-compulsive disorder

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder. / Arthur, Karissa C.; Rivera, Alberto M.; Samuels, Jack; Wang, Ying; Grados, Marcos; Goes, Fernando S.; Maher, Brion; Nestadt, Gerald; Traynor, Bryan J.

In: Journal of the Neurological Sciences, Vol. 375, 15.04.2017, p. 71-72.

Research output: Contribution to journalArticle

Arthur, Karissa C.; Rivera, Alberto M.; Samuels, Jack; Wang, Ying; Grados, Marcos; Goes, Fernando S.; Maher, Brion; Nestadt, Gerald; Traynor, Bryan J. / C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder.

In: Journal of the Neurological Sciences, Vol. 375, 15.04.2017, p. 71-72.

Research output: Contribution to journalArticle

@article{840653f8ee3d498e9c47c2c1f4dedf34,
title = "C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder",
abstract = "Obsessive-compulsive disorder (OCD) is a polygenic neuropsychiatric disorder characterized by repetitive thoughts and behaviors that cause distress. The pathogenic repeat expansion [GGGGCC]n found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. Furthermore, obsessions and compulsions have been identified in patients diagnosed with ALS and/or FTD and carrying the pathogenic repeat expansion. Here, we performed genetic screening for the C9orf72 repeat expansion on 573 patients diagnosed with OCD. None of the patients were found to carry the expansion. The results show that patients with OCD do not commonly carry the pathogenic repeat expansion and therefore should not be routinely screened. OCD and psychotic patients who do test positive for the C9orf72, however, should be closely observed for the later development of FTD and ALS.",
keywords = "Amyotrophic lateral sclerosis, C9orf72, Frontotemporal dementia, Obsessive-compulsive disorder",
author = "Arthur, {Karissa C.} and Rivera, {Alberto M.} and Jack Samuels and Ying Wang and Marcos Grados and Goes, {Fernando S.} and Brion Maher and Gerald Nestadt and Traynor, {Bryan J.}",
year = "2017",
month = "4",
doi = "10.1016/j.jns.2017.01.040",
volume = "375",
pages = "71--72",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",

}

TY - JOUR

T1 - C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder

AU - Arthur,Karissa C.

AU - Rivera,Alberto M.

AU - Samuels,Jack

AU - Wang,Ying

AU - Grados,Marcos

AU - Goes,Fernando S.

AU - Maher,Brion

AU - Nestadt,Gerald

AU - Traynor,Bryan J.

PY - 2017/4/15

Y1 - 2017/4/15

N2 - Obsessive-compulsive disorder (OCD) is a polygenic neuropsychiatric disorder characterized by repetitive thoughts and behaviors that cause distress. The pathogenic repeat expansion [GGGGCC]n found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. Furthermore, obsessions and compulsions have been identified in patients diagnosed with ALS and/or FTD and carrying the pathogenic repeat expansion. Here, we performed genetic screening for the C9orf72 repeat expansion on 573 patients diagnosed with OCD. None of the patients were found to carry the expansion. The results show that patients with OCD do not commonly carry the pathogenic repeat expansion and therefore should not be routinely screened. OCD and psychotic patients who do test positive for the C9orf72, however, should be closely observed for the later development of FTD and ALS.

AB - Obsessive-compulsive disorder (OCD) is a polygenic neuropsychiatric disorder characterized by repetitive thoughts and behaviors that cause distress. The pathogenic repeat expansion [GGGGCC]n found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. Furthermore, obsessions and compulsions have been identified in patients diagnosed with ALS and/or FTD and carrying the pathogenic repeat expansion. Here, we performed genetic screening for the C9orf72 repeat expansion on 573 patients diagnosed with OCD. None of the patients were found to carry the expansion. The results show that patients with OCD do not commonly carry the pathogenic repeat expansion and therefore should not be routinely screened. OCD and psychotic patients who do test positive for the C9orf72, however, should be closely observed for the later development of FTD and ALS.

KW - Amyotrophic lateral sclerosis

KW - C9orf72

KW - Frontotemporal dementia

KW - Obsessive-compulsive disorder

UR - http://www.scopus.com/inward/record.url?scp=85010005257&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85010005257&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2017.01.040

DO - 10.1016/j.jns.2017.01.040

M3 - Article

VL - 375

SP - 71

EP - 72

JO - Journal of the Neurological Sciences

T2 - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -