Review article

Genetics of neurodegenerative diseases

Iva Gašparović ; Zavod za kliničku neurologiju, Klinika za neurologiju, KBC Rijeka, Rijeka
Nada Starčević-Čizmarević ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Olivio Perković ; Zavod za kliničku neurologiju, Klinika za neurologiju, KBC Rijeka, Rijeka
Igor Antončić ; Zavod za kliničku neurologiju, Klinika za neurologiju, KBC Rijeka, Rijeka
Miljenko Kapović ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Smiljana Ristić ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka

Abstract

neurodegenerative diseases, namely Alzheimer disease, Parkinson’s disease, progressive
supranuclear palsy, frontotemporal dementia, corticobasal degeneration, Huntington
disease, prion disease, amiotrophic lateral sclerosis and spinocerebelar ataxias are storage
diseases. Their pathophysiology can be linked to abnormal proteins which settle down in central
nervous system causing a slow and progressive breakdown of nervous tissue and cause
typical manifestations of the disease. Autoimmune demyelinating disease as multiple sclerosis
is as well thought to be a neurodegenerative disease, which in difference to other diseases,
occurs in younger population. Neurodegenerative diseases mostly occur as a consequence of
genetic, epigenetic, and environmental factors and we think of them as multifactorial diseases;
even though cases of monogenetic inheritance have been postulated. The contribution of
genes as risk factors has been postulated not only in genetically inherited forms but also in
sporadic forms. Many genes have been thought to be of importance for the development of
disease, and some have been thought to contribute to a number of neurodegenerative diseases.
Many genes have still not been discovered, and in a number of described genes no explanation
was given of their function in disease development. Although gene therapy was
postulated in some diseases, as in Parkinson’s disease, the modification of risk genes has still
not taken its turn in. Future investigations should enlighten new genetic markers and epistatic
and epidgenetic interactions which have an important role in complex predisposition for neurodegenerative
diseases

Keywords

genetics; neurodegenerative diseases; storage diseases; susceptibility genes

Hrčak ID:

103480

URI

https://hrcak.srce.hr/103480

Publication date:

5.6.2013.

Article data in other languages: croatian

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