Phenotypic features of myoclonusdystonia in three kindreds

D. O. Doheny, M. F. Brin, C. E. Morrison, C. J. Smith, R. H. Walker, S. Abbasi, B. Müller, J. Garrels, L. Liu, P. De Carvalho Aguiar, K. Schilling, P. Kramer, D. De Leon, D. Raymond, R. Saunders-Pullman, C. Klein, S. B. Bressman, B. Schmand, M. A J Tijssen, L. J. Ozelius & 1 others J. M. Silverman

Research output: Contribution to journalArticle

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Abstract

Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the ε-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2) gene (one family). Objective: To investigate the clinical phenotype associated with M-D including motor symptoms, psychiatric disorders, and neuropsychological deficits. Methods: Fifty individuals in three M-D families were evaluated and a standardized neurologic examination and DNA analysis were performed. Psychiatric profiles were established with the Diagnostic Interviews for Genetic Studies (DIGS) and the Yale-Brown Obsessive-Compulsive Scale (YBOCS). Cognition was evaluated with standardized neuropsychological tests. Results: Distinct truncating mutations in the SGCE gene were identified in each family. Additionally, a missense alteration in the DRD2 gene was previously found in one family. Motor expression was variable, with onset of myoclonus or dystonia or both affecting the upper body and progression to myoclonus and dystonia in most cases. Psychiatric profiles revealed depression, obsessive-compulsive disorder, substance abuse, anxiety/panic/phobic disorders, and psychosis in two families, and depression only in the third family. Averaged scores from cognitive testing showed impaired verbal learning and memory in one family, impaired memory in the second family, and no cognitive deficits in the third family. Conclusions: Cognitive deficits may be associated with M-D. Psychiatric abnormalities correlate with the motor symptoms in affected individuals. Assessment of additional M-D families with known mutations is needed to determine whether these are characteristic phenotypic manifestations of M-D.

Original languageEnglish (US)
Pages (from-to)1187-1196
Number of pages10
JournalNeurology
Volume59
Issue number8
StatePublished - Oct 22 2002

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Psychiatry
Sarcoglycans
Genes
Mutation
Depression
Verbal Learning
Dopamine D2 Receptors
Myoclonic dystonia
Phobic Disorders
Neuropsychological Tests
Panic Disorder
Obsessive-Compulsive Disorder
Neurologic Examination
Movement Disorders
Psychotic Disorders
Cognition
Substance-Related Disorders
Anxiety
Interviews
Phenotype

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Doheny, D. O., Brin, M. F., Morrison, C. E., Smith, C. J., Walker, R. H., Abbasi, S., ... Silverman, J. M. (2002). Phenotypic features of myoclonusdystonia in three kindreds. Neurology, 59(8), 1187-1196.

Phenotypic features of myoclonusdystonia in three kindreds. / Doheny, D. O.; Brin, M. F.; Morrison, C. E.; Smith, C. J.; Walker, R. H.; Abbasi, S.; Müller, B.; Garrels, J.; Liu, L.; De Carvalho Aguiar, P.; Schilling, K.; Kramer, P.; De Leon, D.; Raymond, D.; Saunders-Pullman, R.; Klein, C.; Bressman, S. B.; Schmand, B.; Tijssen, M. A J; Ozelius, L. J.; Silverman, J. M.

In: Neurology, Vol. 59, No. 8, 22.10.2002, p. 1187-1196.

Research output: Contribution to journalArticle

Doheny, DO, Brin, MF, Morrison, CE, Smith, CJ, Walker, RH, Abbasi, S, Müller, B, Garrels, J, Liu, L, De Carvalho Aguiar, P, Schilling, K, Kramer, P, De Leon, D, Raymond, D, Saunders-Pullman, R, Klein, C, Bressman, SB, Schmand, B, Tijssen, MAJ, Ozelius, LJ & Silverman, JM 2002, 'Phenotypic features of myoclonusdystonia in three kindreds', Neurology, vol. 59, no. 8, pp. 1187-1196.
Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S et al. Phenotypic features of myoclonusdystonia in three kindreds. Neurology. 2002 Oct 22;59(8):1187-1196.
Doheny, D. O. ; Brin, M. F. ; Morrison, C. E. ; Smith, C. J. ; Walker, R. H. ; Abbasi, S. ; Müller, B. ; Garrels, J. ; Liu, L. ; De Carvalho Aguiar, P. ; Schilling, K. ; Kramer, P. ; De Leon, D. ; Raymond, D. ; Saunders-Pullman, R. ; Klein, C. ; Bressman, S. B. ; Schmand, B. ; Tijssen, M. A J ; Ozelius, L. J. ; Silverman, J. M. / Phenotypic features of myoclonusdystonia in three kindreds. In: Neurology. 2002 ; Vol. 59, No. 8. pp. 1187-1196.
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abstract = "Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the ε-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2) gene (one family). Objective: To investigate the clinical phenotype associated with M-D including motor symptoms, psychiatric disorders, and neuropsychological deficits. Methods: Fifty individuals in three M-D families were evaluated and a standardized neurologic examination and DNA analysis were performed. Psychiatric profiles were established with the Diagnostic Interviews for Genetic Studies (DIGS) and the Yale-Brown Obsessive-Compulsive Scale (YBOCS). Cognition was evaluated with standardized neuropsychological tests. Results: Distinct truncating mutations in the SGCE gene were identified in each family. Additionally, a missense alteration in the DRD2 gene was previously found in one family. Motor expression was variable, with onset of myoclonus or dystonia or both affecting the upper body and progression to myoclonus and dystonia in most cases. Psychiatric profiles revealed depression, obsessive-compulsive disorder, substance abuse, anxiety/panic/phobic disorders, and psychosis in two families, and depression only in the third family. Averaged scores from cognitive testing showed impaired verbal learning and memory in one family, impaired memory in the second family, and no cognitive deficits in the third family. Conclusions: Cognitive deficits may be associated with M-D. Psychiatric abnormalities correlate with the motor symptoms in affected individuals. Assessment of additional M-D families with known mutations is needed to determine whether these are characteristic phenotypic manifestations of M-D.",
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T1 - Phenotypic features of myoclonusdystonia in three kindreds

AU - Doheny, D. O.

AU - Brin, M. F.

AU - Morrison, C. E.

AU - Smith, C. J.

AU - Walker, R. H.

AU - Abbasi, S.

AU - Müller, B.

AU - Garrels, J.

AU - Liu, L.

AU - De Carvalho Aguiar, P.

AU - Schilling, K.

AU - Kramer, P.

AU - De Leon, D.

AU - Raymond, D.

AU - Saunders-Pullman, R.

AU - Klein, C.

AU - Bressman, S. B.

AU - Schmand, B.

AU - Tijssen, M. A J

AU - Ozelius, L. J.

AU - Silverman, J. M.

PY - 2002/10/22

Y1 - 2002/10/22

N2 - Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the ε-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2) gene (one family). Objective: To investigate the clinical phenotype associated with M-D including motor symptoms, psychiatric disorders, and neuropsychological deficits. Methods: Fifty individuals in three M-D families were evaluated and a standardized neurologic examination and DNA analysis were performed. Psychiatric profiles were established with the Diagnostic Interviews for Genetic Studies (DIGS) and the Yale-Brown Obsessive-Compulsive Scale (YBOCS). Cognition was evaluated with standardized neuropsychological tests. Results: Distinct truncating mutations in the SGCE gene were identified in each family. Additionally, a missense alteration in the DRD2 gene was previously found in one family. Motor expression was variable, with onset of myoclonus or dystonia or both affecting the upper body and progression to myoclonus and dystonia in most cases. Psychiatric profiles revealed depression, obsessive-compulsive disorder, substance abuse, anxiety/panic/phobic disorders, and psychosis in two families, and depression only in the third family. Averaged scores from cognitive testing showed impaired verbal learning and memory in one family, impaired memory in the second family, and no cognitive deficits in the third family. Conclusions: Cognitive deficits may be associated with M-D. Psychiatric abnormalities correlate with the motor symptoms in affected individuals. Assessment of additional M-D families with known mutations is needed to determine whether these are characteristic phenotypic manifestations of M-D.

AB - Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the ε-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2) gene (one family). Objective: To investigate the clinical phenotype associated with M-D including motor symptoms, psychiatric disorders, and neuropsychological deficits. Methods: Fifty individuals in three M-D families were evaluated and a standardized neurologic examination and DNA analysis were performed. Psychiatric profiles were established with the Diagnostic Interviews for Genetic Studies (DIGS) and the Yale-Brown Obsessive-Compulsive Scale (YBOCS). Cognition was evaluated with standardized neuropsychological tests. Results: Distinct truncating mutations in the SGCE gene were identified in each family. Additionally, a missense alteration in the DRD2 gene was previously found in one family. Motor expression was variable, with onset of myoclonus or dystonia or both affecting the upper body and progression to myoclonus and dystonia in most cases. Psychiatric profiles revealed depression, obsessive-compulsive disorder, substance abuse, anxiety/panic/phobic disorders, and psychosis in two families, and depression only in the third family. Averaged scores from cognitive testing showed impaired verbal learning and memory in one family, impaired memory in the second family, and no cognitive deficits in the third family. Conclusions: Cognitive deficits may be associated with M-D. Psychiatric abnormalities correlate with the motor symptoms in affected individuals. Assessment of additional M-D families with known mutations is needed to determine whether these are characteristic phenotypic manifestations of M-D.

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