AMIOTROPHIC LATERAL SCLEROSIS IN PATIENTS WITH EXPANSION IN THE C9ORF72 GENE: DESCRIPTION OF CLINICAL CASES
- Авторлар: Razinskaya O.D1
-
Мекемелер:
- FSBEI HE RNSMU n.a. N.I. Pirogov of RMH
- Шығарылым: № 9 (2017)
- Беттер: 108-111
- Бөлім: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/289879
- ID: 289879
Дәйексөз келтіру
Ашық рұқсат
Рұқсат берілді
Аннотация
There are some literature data on the features of the clinical manifestation and course of the amyotrophic lateral sclerosis (ALS) in patients with different genetic mutations. A recently discovered mutation in the C90RF72 gene in patients with ALS has the characteristic clinical features of the course of the disease - rapid progression (survival less than 3 years) and generalization of the process with the development of severe motor, bulbar symptoms and severe respiratory failure, cognitive impairment and emotional lability. Clinical cases of ALS in two patients with a mutation in the C90RF72 gene are discussed.
Негізгі сөздер
Толық мәтін
Авторлар туралы
O. Razinskaya
FSBEI HE RNSMU n.a. N.I. Pirogov of RMH
Email: july2000@mail.iu
Teaching Assistant at the Department of Fundamental and Clinical Neurology and Neurosurgery MBF
Әдебиет тізімі
- Logroscino G., Traynor B.J., Hardiman O., Chiò A., Mitchell D., Swingler R.J., Millul A., Benn E., Beghi E. Incidence of amyotrophic lateral sclerosis in Europe. J. Neurol. Neurosurg. Psychiatry. 2010;81:385-90.
- Скворцова В.И., Смирнов А.П., Алехин А.В., Ковражкина Е.А. Клинико-эпидемиологическое исследование болезни двигательного нейрона в Москве. Журн. неврологии и психиатрии. 2009;3:53-5.
- Montuschi A., lazzolino B., Calvo A., Moglia C., Lopiano L., Restagno G., Brunetti M., Ossola I., Lo Presti A., Cammarosano S., Canosa A., Chiò A. Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy. J. Neurol. Neurosurg. Psychiatry. 2015;86(2):168-73.
- Vance C., Rogelj B., Hortobàgyi T., De Vos K.J., Nishimura A.L., Sreedharan J. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323(5918):1208-11.
- Van Rheenen W., Van Blitterswijk M., Huisman M.H., Vlam L., van Doormaal P.T., Seelen M., Medic J., Dooijes D., de Visser M., van der Kooi A.J., Raaphorst J., Schelhaas H.J., van der Pol W.L., Veldink J.H., van den Berg L.H. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology. 2012;79(9): 878-82.
Қосымша файлдар
