Huntington Hastalığında Dikkat Fonksiyonlarının Değerlendirilmesi

Giriş: Huntington hastalığı (HH) otozomal dominant geçişli nörodejeneratif bir hastalıktır. HH'li hastalar üçlü klinik triada sahiptir. Bunlar; motor, kognitif ve psikiyatrik özelliklerdir. Dikkat fonksiyonları HH'li hastalarda klinik seyir başladıktan sonra bozulmaya başlamaktadır. Bu çalışmanın amacı; genetik tanıları doğrulanmış olan HH'li hastalarda dikkat fonksiyonlarının kontrol grubu ile karşılaştırarak değerlendirmektir. Bulgular: Her iki grup 9 erkek ve 6 kadın bireyden oluşuyordu. Hasta ve kontrol grubunun yaş ortalaması 48 bulundu. Hasta grubunda ortalama hastalık süresi 5 yıldı . Hastaların ortalama CAG tekrar sayıları 43.3 ± 3.5 bulundu. Hasta grubunda dikkat test skorları hem İST-A testinde ve hem de stroop testinde istatiksel olarak daha kötü bulundu. Bu verilere ilave olarak, hastaların CAG tekrar sayıları artıkça, tüm test süreleri de daha fazla zaman alıyordu. Ayrıca CAG sayısı ile hastalık süresi ve total motor skorları arasında pozitif korelasyon bulundu. Bu durum istatistiksel olarak anlamlı bulundu Sonuç: HH'da dikkat fonksiyonları kliniği hafif olan ve CAG tekrar sayısı az olan olgularda bile bozulmaktadır. Bu durum sadece kognisyonu değil aynı zamanda motor fonksiyonları da olumsuz etkileyebilmektedir.

Evaluation of attention functions in Huntington's disease

Objective: Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease. Patients with HD have a triple clinical triad. These are motor, cognitive and psychiatric features. Attention functions are beginning to deteriorate in patients with HD after the clinical course begins. The purpose of this study is compared of attention functions in HD patients who genetic diagnosesconfirmed and control group. Methods: Fifteen patients with HD and 15 healthy control group confirmed were included in the study. A battery containing the Stroop test, trail making test and Mini Mental State Examination (MMSE) test were applied to assess participants' cognitive functions. Results: There were 9 males and 6 females in each group. The average age of the patient and control group was 48. The mean duration of disease in the patient group was 5 years . Mean CAG recall of the patients was 43.3 ± 3.5 . In the patient group, attention test scores were statistically worse in both trail making test and Stroop test. In addition to these data,Ifthe patients' number of CAG repetition was increased, all the test periods were taking more time. There was also a positive correlation between CAG repetition and duration of illness and total motor scores. This was statistically significant. Conclusion: Attention functions in HD are disturbed even in patients with mild clinic and low CAG repetition count. This not only affects the cognition but also the motor functions.

PDF

___

Apolinário TA, Paiva CL, Agostinho LA. Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review.Genet Mol Res. 2017;16:1-16.
Imarisio S, Carmichael J, Korochuk V, et al. Huntington's disease: from pathology and genetics to potential therapies. Biochem J. 2008;412:191-209.
Rawlins MD, Wexler NS, Wexler AR, et al. The Prevalence Disease.Neuroepidemiology. 2016;46:144-53. of Huntington's
Mehrabi NF, Singh-Bains MK, Waldvogel HJ, Faull RLM. Cortico-Basal Ganglia Interactions in Huntington's Disease. Ann Neurodegener Dis. 2016;1:1007-13.
Jane S. Paulsen. Cognitive Impairment in Huntington Disease: Diagnosis and Treatment. Curr Neurol Neurosci Rep. 2011;11:474-83.
Huntington Study Group. Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord. 1996;11:136-42.
Folstein, M, Folstein S, McHugh P. Mini-Mental State: A practical method for grading the cognitive state of patients from clinician. Journal of Psychiatric Research.1975;12:189-98.
Güngen C, Ertan T, Eker E ve ark. Standardize mini mental test'in Türk toplumunda hafif demans tanısında geçerlik Dergisi.2002;13:273-81. Türk Psikiyatri
Karakaş S, Erdoğan E, Sak L ve ark. Stroop Testi TBAG Formu: Türk kültürüne standardizasyon çalışmaları, güvenirlik ve geçerlik. Klinik Psikiyatri Dergisi. 1999; 2: 75-88.
Tombaugh TN. Trail Making Test A and B: Normative data stratified by age and education, Archives of Clinical Neuropsychology. 2004;19:203-14.
Cangöz B, Karakoç E, Selekler K. İz Sürme Testi'nin Türk yetişkin ve yaşlı örneklemi üzerindeki standardizasyon Dergisi.2007;10:73-82. Türk Geriatri
Paulsen JS, Langbehn DR, Stout JC, et al.Detection of Huntington's disease decades before diagnosis: the Predict-HD Psychiatry.2008;79:874-80. J Neurol Neurosurg
Stout JC, Paulsen JS, Queller S, et al. Neurocognitive signs Neuropsychology.2011;25:1-14. huntington disease.
Robins Wahlin TB, Lundin A, Dear K. Early cognitive deficits in Swedish gene carriers of Huntington's disease. Neuropsychology.2007;21:31-44.
Reilmann R, Leavitt BR, Ross CA. Diagnostic criteria for Huntington's disease based on natural history. Mov Disord. 2014;29:1335-41.
Fritz NE, Hamana K, Kelson M, et al. Motor-cognitive dual -task deficits in individuals with early-mid stage Huntington disease.Gait Posture. 2016;49:283-9.
Delval A, Krystkowiak P, Delliaux M, et al. Role of attentional resources on gait performance in Huntington's disease, Mov Disord. 2008;23:684-9.