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Erschienen in: Somnologie 3/2014

01.09.2014 | Schwerpunkt

Genetische Aspekte der REM-Schlaf-Verhaltensstörung

verfasst von: P. Young

Erschienen in: Somnologie | Ausgabe 3/2014

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Zusammenfassung

Die idiopathische REM-Schlaf-Verhaltensstörung wird als eine sporadisch auftretende Erkrankung angesehen. Aus einzelnen Assoziationsuntersuchungen zu genetisch bedingten Parkinson-Syndromen, der spinozerebellären Ataxie Typ 3 (Machado-Josef-Erkrankung), sowie aus einer HLA-Untersuchung ergeben sich Hinweise, dass eine genetische Komponente der idiopathischen REM-Schlaf-Verhaltensstörung besteht. Im Gegensatz zu den Non-REM-Parasomnien besteht nur eine sehr schwache und bislang nur in kleinen Kohorten nachgewiesene Assoziation zum HLA-System. Der stärkste Hinweis auf eine mögliche genetische Komponente wurde erst letztlich geliefert durch eine große Kohorte von über 300 Patienten, bei denen das Auftreten einer idiopathischen REM-Schlaf-Verhaltensstörung eine vergleichsweise erhöhte familiäre Prävalenz zu normalen alters- und geschlechtsbezogenen Kontrollen zeigte. Vor dem Hintergrund dieser Befunde ist davon auszugehen, dass die idiopathische REM-Schlaf-Verhaltensstörung durch genetische Faktoren moduliert wird. Prädiktive genetische Marker existieren bislang nicht für die idiopathische REM-Schlaf-Verhaltensstörung.
Literatur
1.
Zurück zum Zitat Schenck CH, Mahowald MW (2002) REM sleep behavior disorder: clinical, developmental, and neuroscience perspectives 16 years after its formal identification in SLEEP. Sleep 25:120–138PubMed Schenck CH, Mahowald MW (2002) REM sleep behavior disorder: clinical, developmental, and neuroscience perspectives 16 years after its formal identification in SLEEP. Sleep 25:120–138PubMed
2.
Zurück zum Zitat Schenck CH, Hurwitz TD, Mahowald MW (1988) REM sleep behavior disorder. Am J Psychiatry 145:652PubMed Schenck CH, Hurwitz TD, Mahowald MW (1988) REM sleep behavior disorder. Am J Psychiatry 145:652PubMed
3.
Zurück zum Zitat Sixel-Doring F, Trautmann E, Mollenhauer B et al (2011) Associated factors for REM sleep behavior disorder in Parkinson disease. Neurology 77:1048–1054PubMedCrossRef Sixel-Doring F, Trautmann E, Mollenhauer B et al (2011) Associated factors for REM sleep behavior disorder in Parkinson disease. Neurology 77:1048–1054PubMedCrossRef
4.
Zurück zum Zitat Postuma RB, Lang AE, Massicotte-Marquez J et al (2006) Potential early markers of Parkinson disease in idiopathic REM sleep behavior disorder. Neurology 66:845–851PubMedCrossRef Postuma RB, Lang AE, Massicotte-Marquez J et al (2006) Potential early markers of Parkinson disease in idiopathic REM sleep behavior disorder. Neurology 66:845–851PubMedCrossRef
5.
Zurück zum Zitat Miyamoto T, Miyamoto M, Iwanami M et al (2011) Idiopathic REM sleep behavior disorder: implications for the pathogenesis of Lewy body diseases. Parkinsons Dis 2011:941268PubMedPubMedCentral Miyamoto T, Miyamoto M, Iwanami M et al (2011) Idiopathic REM sleep behavior disorder: implications for the pathogenesis of Lewy body diseases. Parkinsons Dis 2011:941268PubMedPubMedCentral
6.
Zurück zum Zitat Iranzo A, Santamaria J, Rye DB et al (2005) Characteristics of idiopathic REM sleep behavior disorder and that associated with MSA and PD. Neurology 65:247–252PubMedCrossRef Iranzo A, Santamaria J, Rye DB et al (2005) Characteristics of idiopathic REM sleep behavior disorder and that associated with MSA and PD. Neurology 65:247–252PubMedCrossRef
7.
Zurück zum Zitat Lecendreux M, Bassetti C, Dauvilliers Y et al (2003) HLA and genetic susceptibility to sleepwalking. Mol Psychiatry 8:114–117PubMedCrossRef Lecendreux M, Bassetti C, Dauvilliers Y et al (2003) HLA and genetic susceptibility to sleepwalking. Mol Psychiatry 8:114–117PubMedCrossRef
8.
Zurück zum Zitat Schenck CH, Mahowald MW, Kim SW et al (1992) Prominent eye movements during NREM sleep and REM sleep behavior disorder associated with fluoxetine treatment of depression and obsessive-compulsive disorder. Sleep 15:226–235PubMed Schenck CH, Mahowald MW, Kim SW et al (1992) Prominent eye movements during NREM sleep and REM sleep behavior disorder associated with fluoxetine treatment of depression and obsessive-compulsive disorder. Sleep 15:226–235PubMed
9.
10.
Zurück zum Zitat Wing YK, Lam SP, Li SX et al (2008) REM sleep behaviour disorder in Hong Kong Chinese: clinical outcome and gender comparison. J Neurol Neurosurg Psychiatry 79:1415–1416PubMedCrossRef Wing YK, Lam SP, Li SX et al (2008) REM sleep behaviour disorder in Hong Kong Chinese: clinical outcome and gender comparison. J Neurol Neurosurg Psychiatry 79:1415–1416PubMedCrossRef
11.
Zurück zum Zitat Comella CL, Nardine TM, Diederich NJ et al (1998) Sleep-related violence, injury, and REM sleep behavior disorder in Parkinson’s disease. Neurology 51:526–529PubMedCrossRef Comella CL, Nardine TM, Diederich NJ et al (1998) Sleep-related violence, injury, and REM sleep behavior disorder in Parkinson’s disease. Neurology 51:526–529PubMedCrossRef
12.
Zurück zum Zitat Lam SP, Li SX, Mok V et al (2012) Young-onset REM sleep behavior disorder: beyond the antidepressant effect. Sleep Med 13:211PubMedCrossRef Lam SP, Li SX, Mok V et al (2012) Young-onset REM sleep behavior disorder: beyond the antidepressant effect. Sleep Med 13:211PubMedCrossRef
13.
Zurück zum Zitat Rye DB, Johnston LH, Watts RL et al (1999) Juvenile Parkinson’s disease with REM sleep behavior disorder, sleepiness, and daytime REM onset. Neurology 53:1868–1870PubMedCrossRef Rye DB, Johnston LH, Watts RL et al (1999) Juvenile Parkinson’s disease with REM sleep behavior disorder, sleepiness, and daytime REM onset. Neurology 53:1868–1870PubMedCrossRef
14.
Zurück zum Zitat Dauvilliers Y, Postuma RB, Ferini-Strambi L et al (2013) Family history of idiopathic REM behavior disorder: a multicenter case-control study. Neurology 80:2233–2235PubMedCrossRefPubMedCentral Dauvilliers Y, Postuma RB, Ferini-Strambi L et al (2013) Family history of idiopathic REM behavior disorder: a multicenter case-control study. Neurology 80:2233–2235PubMedCrossRefPubMedCentral
15.
Zurück zum Zitat Mahowald MW, Schenck CH (2013) REM sleep behaviour disorder: a marker of synucleinopathy. Lancet Neurol 12:417–419PubMedCrossRef Mahowald MW, Schenck CH (2013) REM sleep behaviour disorder: a marker of synucleinopathy. Lancet Neurol 12:417–419PubMedCrossRef
16.
Zurück zum Zitat Boeve BF, Silber MH, Parisi JE et al (2003) Synucleinopathy pathology and REM sleep behavior disorder plus dementia or parkinsonism. Neurology 61:40–45PubMedCrossRef Boeve BF, Silber MH, Parisi JE et al (2003) Synucleinopathy pathology and REM sleep behavior disorder plus dementia or parkinsonism. Neurology 61:40–45PubMedCrossRef
17.
Zurück zum Zitat Boeve BF, Silber MH, Ferman TJ et al (2001) Association of REM sleep behavior disorder and neurodegenerative disease may reflect an underlying synucleinopathy. Mov Disord 16:622–630PubMedCrossRef Boeve BF, Silber MH, Ferman TJ et al (2001) Association of REM sleep behavior disorder and neurodegenerative disease may reflect an underlying synucleinopathy. Mov Disord 16:622–630PubMedCrossRef
18.
Zurück zum Zitat Klein C, Schlossmacher MG (2006) The genetics of Parkinson disease: implications for neurological care. Nat Clin Pract Neurol 2:136–146PubMedCrossRef Klein C, Schlossmacher MG (2006) The genetics of Parkinson disease: implications for neurological care. Nat Clin Pract Neurol 2:136–146PubMedCrossRef
19.
Zurück zum Zitat Johnson J, Hague SM, Hanson M et al (2004) SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology 63:554–556PubMedCrossRef Johnson J, Hague SM, Hanson M et al (2004) SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology 63:554–556PubMedCrossRef
20.
Zurück zum Zitat Bonifati V, Dekker MC, Vanacore N et al (2002) Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7. Neurol Sci 23(Suppl 2):S59–S60PubMedCrossRef Bonifati V, Dekker MC, Vanacore N et al (2002) Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7. Neurol Sci 23(Suppl 2):S59–S60PubMedCrossRef
21.
Zurück zum Zitat Healy DG, Abou-Sleiman PM, Wood NW (2004) PINK, PANK, or PARK? A clinicians‘ guide to familial parkinsonism. Lancet Neurol 3:652–662PubMedCrossRef Healy DG, Abou-Sleiman PM, Wood NW (2004) PINK, PANK, or PARK? A clinicians‘ guide to familial parkinsonism. Lancet Neurol 3:652–662PubMedCrossRef
22.
Zurück zum Zitat Kumru H, Santamaria J, Tolosa E et al (2004) Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutations. Ann Neurol 56:599–603PubMedCrossRef Kumru H, Santamaria J, Tolosa E et al (2004) Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutations. Ann Neurol 56:599–603PubMedCrossRef
23.
Zurück zum Zitat Limousin N, Konofal E, Karroum E et al (2009) Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations. Mov Disord 24:1970–1976PubMedCrossRef Limousin N, Konofal E, Karroum E et al (2009) Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations. Mov Disord 24:1970–1976PubMedCrossRef
24.
Zurück zum Zitat Schenck CH, Bundlie SR, Mahowald MW (1996) Delayed emergence of a parkinsonian disorder in 38 % of 29 older men initially diagnosed with idiopathic rapid eye movement sleep behaviour disorder. Neurology 46:388–393PubMedCrossRef Schenck CH, Bundlie SR, Mahowald MW (1996) Delayed emergence of a parkinsonian disorder in 38 % of 29 older men initially diagnosed with idiopathic rapid eye movement sleep behaviour disorder. Neurology 46:388–393PubMedCrossRef
25.
Zurück zum Zitat Luca G, Haba-Rubio J, Dauvilliers Y et al (2013) Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. J Sleep Res 22:482–495PubMedCrossRef Luca G, Haba-Rubio J, Dauvilliers Y et al (2013) Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. J Sleep Res 22:482–495PubMedCrossRef
26.
Zurück zum Zitat Hor H, Kutalik Z, Dauvilliers Y et al (2010) Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet 42:786–789PubMedCrossRef Hor H, Kutalik Z, Dauvilliers Y et al (2010) Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet 42:786–789PubMedCrossRef
27.
Zurück zum Zitat Bernardini C, Lattanzi W, Bosco P et al (2012) Genome-wide gene expression profiling of human narcolepsy. Gene Expr 15:171–181PubMedCrossRef Bernardini C, Lattanzi W, Bosco P et al (2012) Genome-wide gene expression profiling of human narcolepsy. Gene Expr 15:171–181PubMedCrossRef
28.
Zurück zum Zitat Winkelmann J, Schormair B, Lichtner P et al (2007) Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 39:1000–1006PubMedCrossRef Winkelmann J, Schormair B, Lichtner P et al (2007) Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 39:1000–1006PubMedCrossRef
29.
Zurück zum Zitat Valente EM, Bentivoglio AR, Dixon PH et al (2001) Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 68:895–900PubMedCrossRefPubMedCentral Valente EM, Bentivoglio AR, Dixon PH et al (2001) Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 68:895–900PubMedCrossRefPubMedCentral
30.
Zurück zum Zitat Tuin I, Voss U, Kessler K et al (2008) Sleep quality in a family with hereditary parkinsonism (PARK6). Sleep Med 9:684–688PubMedCrossRef Tuin I, Voss U, Kessler K et al (2008) Sleep quality in a family with hereditary parkinsonism (PARK6). Sleep Med 9:684–688PubMedCrossRef
31.
Zurück zum Zitat Lo Coco D, Caruso G, Mattaliano A (2009) REM sleep behavior disorder in patients with DJ-1 mutations and parkinsonism-dementia-ALS complex. Mov Disord 24:1555–1556CrossRef Lo Coco D, Caruso G, Mattaliano A (2009) REM sleep behavior disorder in patients with DJ-1 mutations and parkinsonism-dementia-ALS complex. Mov Disord 24:1555–1556CrossRef
32.
Zurück zum Zitat Boeve BF (2010) REM sleep behavior disorder: updated review of the core features, the REM sleep behavior disorder-neurodegenerative disease association, evolving concepts, controversies, and future directions. Ann N Y Acad Sci 1184:15–54PubMedCrossRefPubMedCentral Boeve BF (2010) REM sleep behavior disorder: updated review of the core features, the REM sleep behavior disorder-neurodegenerative disease association, evolving concepts, controversies, and future directions. Ann N Y Acad Sci 1184:15–54PubMedCrossRefPubMedCentral
33.
Zurück zum Zitat Maciel P, Gaspar C, DeStefano AL et al (1995) Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 57:54–61PubMedPubMedCentral Maciel P, Gaspar C, DeStefano AL et al (1995) Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 57:54–61PubMedPubMedCentral
34.
Zurück zum Zitat Lang AE, Rogaeva EA, Tsuda T et al (1994) Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 36:443–447PubMedCrossRef Lang AE, Rogaeva EA, Tsuda T et al (1994) Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 36:443–447PubMedCrossRef
35.
Zurück zum Zitat Takiyama Y, Nishizawa M, Tanaka H et al (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 4:300–304PubMedCrossRef Takiyama Y, Nishizawa M, Tanaka H et al (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 4:300–304PubMedCrossRef
36.
Zurück zum Zitat Fukutake T, Shinotoh H, Nishino H et al (2002) Homozygous Machado-Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms. Eur J Neurol 9:97–100PubMedCrossRef Fukutake T, Shinotoh H, Nishino H et al (2002) Homozygous Machado-Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms. Eur J Neurol 9:97–100PubMedCrossRef
37.
Zurück zum Zitat Iranzo A, Munoz E, Santamaria J et al (2003) REM sleep behavior disorder and vocal cord paralysis in Machado-Joseph disease. Mov Disord 18:1179–1183PubMedCrossRef Iranzo A, Munoz E, Santamaria J et al (2003) REM sleep behavior disorder and vocal cord paralysis in Machado-Joseph disease. Mov Disord 18:1179–1183PubMedCrossRef
38.
Zurück zum Zitat Syed BH, Rye DB, Singh G (2003) REM sleep behavior disorder and SCA-3 (Machado-Joseph disease). Neurology 60:148PubMedCrossRef Syed BH, Rye DB, Singh G (2003) REM sleep behavior disorder and SCA-3 (Machado-Joseph disease). Neurology 60:148PubMedCrossRef
39.
Zurück zum Zitat Pedroso JL, Braga-Neto P, Felicio AC et al (2011) Sleep disorders in machado-joseph disease: frequency, discriminative thresholds, predictive values, and correlation with ataxia-related motor and non-motor features. Cerebellum 10:291–295PubMedCrossRef Pedroso JL, Braga-Neto P, Felicio AC et al (2011) Sleep disorders in machado-joseph disease: frequency, discriminative thresholds, predictive values, and correlation with ataxia-related motor and non-motor features. Cerebellum 10:291–295PubMedCrossRef
40.
Zurück zum Zitat Mignot E, Lin X, Hesla PE et al (1993) A novel HLA DR17,DQ1 (DQA1-0102/DQB1-0602 positive) haplotype predisposing to narcolepsy in Caucasians. Sleep 16:764–765PubMed Mignot E, Lin X, Hesla PE et al (1993) A novel HLA DR17,DQ1 (DQA1-0102/DQB1-0602 positive) haplotype predisposing to narcolepsy in Caucasians. Sleep 16:764–765PubMed
42.
43.
44.
45.
Zurück zum Zitat Schenck CH, Garcia-Rill E, Segall M et al (1996) HLA class II genes associated with REM sleep behavior disorder. Ann Neurol 39:261–263PubMedCrossRef Schenck CH, Garcia-Rill E, Segall M et al (1996) HLA class II genes associated with REM sleep behavior disorder. Ann Neurol 39:261–263PubMedCrossRef
46.
Zurück zum Zitat Onofrj M, Luciano AL, Iacono D et al (2003) HLA typing does not predict REM sleep behaviour disorder and hallucinations in Parkinson’s disease. Mov Disord 18:337–340PubMedCrossRef Onofrj M, Luciano AL, Iacono D et al (2003) HLA typing does not predict REM sleep behaviour disorder and hallucinations in Parkinson’s disease. Mov Disord 18:337–340PubMedCrossRef
Metadaten
Titel
Genetische Aspekte der REM-Schlaf-Verhaltensstörung
verfasst von
P. Young
Publikationsdatum
01.09.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Somnologie / Ausgabe 3/2014
Print ISSN: 1432-9123
Elektronische ISSN: 1439-054X
DOI
https://doi.org/10.1007/s11818-014-0679-4

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