Dementiell-depressives Syndrom bei Chorea Huntington

Zusammenfassung

Chorea Huntington ist eine autosomal-dominant vererbte neurodegenerative Erkrankung, die klinisch mit zumeist hyperkinetischen Bewegungsstörungen einhergeht. Darüber hinaus zählen kognitive Störungen bis hin zu Demenz und eine Vielzahl psychischer und vor allem affektiver Symptome zu den klinisch charakteristischen Symptomen und treten bereits Jahre vor den Bewegungsstörungen auf. In der nachfolgenden Kasuistik stellen wir eine Patientin mit einem depressiv-demenziellen Syndrom vor, bei der im weiteren Verlauf die Diagnose einer Chorea Huntington gesichert werden konnte. Insbesondere gehen wir dabei auf die umfassende organische Diagnostik ein, die zwischenzeitlich zu einer anderen Arbeitsdiagnose geführt hatte, und weisen damit auf die diagnostische Herausforderung der Erkrankung hin, insbesondere wenn charakteristische Bewegungsstörungen noch fehlen oder uncharakteristisch sind.

Summary

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder clinically characterized by unwanted hyperkinetic choreatic movements. Cognitive decline, dementia and various psychiatric and mainly affective symptoms are further core symptoms of HD and frequently present years before the onset of motor symptoms. In the following case report, we present a patient with cognitive decline and depressive symptoms that could be ascribed to HD in the further diagnostic process. In particular, we focus on the somatic diagnostic procedure carried out, that meanwhile led to a different working diagnosis, and further point on the diagnostic challenge regarding HD, especially when motor symptoms are absent or uncharacteristic.

Schlüsselwörter

Chorea Huntington - Demenz - depressive Störung - Fallbericht

Keywords

Huntington’s disease - dementia - depressive disorder - case report

• Literatur

• 1 Trottier Y, Biancalana V, Mandel JL. Instability of CAG repeats in Huntington’s disease: relation to parental transmission and age of onset. J Med Genet 1994; 31 (05) 377-82.
• 2 Warby SC, Visscher H, Collins JA, Doty CN, Carter C, Butland SL. et al. HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 2011; 19 (05) 561-6.
• 3 Novak MJU, Tabrizi SJ. Huntington’s disease: clinical presentation and treatment. Int Rev Neurobiol 2011; 98: 297-323.
• 4 Paulsen JS. Cognitive impairment in Huntington Disease: Diagnosis and treatment. Curr Neurol Neurosci Rep 2011; 11 (05) 474-83.
• 5 Roos RAC. Huntington’s disease: a clinical review. Orphanet J Rare Dis 2010; 05 (01) 40.
• 6 van Duijn E, Kingma EM, van der Mast RC. Psychopathology in verified Huntington’s disease gene carriers. J Neuropsychiatry Clin Neurosci 2007; 19 (04) 441-8.
• 7 Ho AK, Gilbert AS, Mason SL, Goodman AO, Barker RA. Health-related quality of life in Huntington’s disease: Which factors matter most?. Mov Disord 2009; 24 (04) 574-8.
• 8 Nehl C, Paulsen JS. Huntington Study Group. Cognitive and psychiatric aspects of Huntington disease contribute to functional capacity. J Nerv Ment Dis 2004; 192 (01) 72-4.
• 9 Duff K, Paulsen JS, Beglinger LJ, Langbehn DR, Stout JC. Predict-HD Investigators of the Huntington Study Group. Psychiatric Symptoms in Huntington’s Disease before Diagnosis: The Predict-HD Study. Biol Psychiatry 2007; 62 (12) 1341-6.
• 10 Rawlins MD, Wexler NS, Wexler AR, Tabrizi SJ, Douglas I, Evans SJW. et al. The Prevalence of Huntington’s Disease. Neuroepidemiology 2016; 46 (02) 144-53.
• 11 van Duijn E, Craufurd D, Hubers AAM, Giltay EJ, Bonelli R, Rickards H. et al. Neuropsychiatric symptoms in a European Huntington’s disease cohort (REGISTRY). J Neurol Neurosurg Psychiatry 2014; 85 (12) 1411-8.
• 12 Berrios GE, Wagle AC, Marková IS, Wagle SA, Ho LW, Rubinsztein DC. et al. Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington’s disease gene carriers. Psychiatry Res 2001; 102 (03) 217-25.
• 13 Shiwach R. Psychopathology in Huntington’s disease patients. Acta Psychiatr Scand 1994; 90 (04) 241-6.
• 14 Julien CL. et al. Psychiatric disorders in preclinical Huntington’s disease. J Neurol Neurosurg Psychiatry 2007; 78 (09) 939-43.
• 15 Paulsen JS, Smith MM, Long JD. PREDICT HD investigators and Coordinators of the Huntington Study Group. Cognitive decline in prodromal Huntington Disease: implications for clinical trials. J Neurol Neurosurg Psychiatry 2013; 84 (11) 1233-9.
• 16 Lawrence AD, Sahakian BJ, Hodges JR, Rosser AE, Lange KW, Robbins TW. Executive and mnemonic functions in early Huntington’s disease. Brain 1996; 1633-45.
• 17 Verny C. et al. Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene. Eur J Neurol 2007; 14 (12) 1344-50.
• 18 Paulsen J. et al. Distinct cognitive profiles of cortical and subcortical dementia in advanced illness. Neurology 1995; 45 (05) 951-6.
• 19 Warby SC, Montpetit A, Hayden AR, Carroll JB, Butland SL, Visscher H. et al. CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet 2009; 84 (03) 351-66.
• 20 Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F. et al. Molecular analysis of new mutations for Huntington’s disease: intermediate alleles and sex of origin effects. Nat Genet 1993; 05 (02) 174-9.
• 21 Goldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F. et al. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995; 04 (10) 1911-8.
• 22 Kremer B. et al. A worldwide study of the Huntington’s disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994; 330 (20) 1401-6.
• 23 Semaka A, Collins JA, Hayden MR. Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles). Am J Med Genet B Neuropsychiatr Genet 2010; 153B (01) 314-20.
• 24 Semaka A. et al. CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease. J Med Genet 2013; 50 (10) 696-703.
• 25 Bellotti R, De Carlo F, Massafra R, de Tommaso M, Sciruicchio V. Topographic classification of EEG patterns in Huntington’s disease. Neurol Clin Neurophysiol 2004; 37.
• 26 Piano C. et al. Wake and Sleep EEG in Patients With Huntington Disease: An eLORETA Study and Review of the Literature. Clin EEG Neurosci 2017; 48 (01) 60-71.
• 27 Vogel F, Wendt GG, Oepen H. Das EEG und das Problem einer Frühdiagnose der Chorea Huntington. Dtsch Z Nervenheilkd 1961; 182 (04) 355-61.