Neurodegenerativne bolesti s taloženjem željeza u mozgu

master's thesis

• Title (english): Neurodegeneration with brain iron accumulation
• Author: Karla Čolak
• Mentor: Nina Barišić (mentor)
• Committee member: Mario Ćuk (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Nina Barišić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2015-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Neurodegenerativne bolesti s taloženjem željeza u mozgu su skupina nasljednih poremećaja u kojima se željezo akumulira u bazalnim ganglijima što rezultira pojavom različitih kliničkih znakova koji upućuju na oštećenje središnjeg živčanog sustava. Glavne kliničke značajke bolesti su distonija, disartrija, parkinsonizam i spasticitet, a u pojedinim oblicima bolesti dolazi i do atrofije vidnog živca i retinalne degeneracije. Bolest najčešće počinje u djetinjstvu i tada je obično brzoprogresivna. Pojedini tipovi neurodegenerativnih bolesti s taloženjem željeza u mozgu imaju kasniji početak bolesti, tijekom adolescencije ili odrasle dobi, te sporiju progresiju bolesti. Otkriveno je deset nasljednih oblika neurodegenerativnih bolesti uzrokovanih odlaganjem željeza u mozgu i njima pridruženih poremećaja gena. Najčešći od njih je mutacija gena koji kodira pantotenat kinazu 2 (PANK2). 8 od 10 ovih poremećaja se nasljeđuje autosomno rescesivno (AR). Dijagnoza bolesti se postavlja na osnovu kliničke slike i nalaza magnetske rezonancije (MR) mozga koji prikazuje odlaganje željeza u bazalnim ganglijima. U obliku povezanom s pantotenat kinazom karakterističan je znak „tigrovog oka“ na slici magnetske rezonancije mozga. Konačna dijagnoza se potvrđuje molekularno-genetskom analizom otkrivanjem mutacije gena koji kodiraju proteine uključene u metabolizam željeza.
Liječenje je simptomatsko i uglavnom je ograničeno na ublažavanje simptoma i sprječavanje sekundarnih komplikacija koje smanjuju kvalitetu života i uzrokuju prijevremenu smrt.

Abstract (english)

Neurodegeneration with brain iron accumulation is a group of inherited disorders in which iron accumulates in the basal ganglia resulting in the emergence of various clinical signs pointing to the damage of the central nervous system. The main clinical features of the disease are dystonia, dysarthria, parkinsonism and spasticity, and in some forms of the disease leads to the optic atrophy nerve and retinal degeneration. The disease usually begins in childhood and then it is usually rapidly progressive. Some types of neurodegenerative diseases with brain iron accumulation have a later onset during adolescence or adulthood, and slower disease progression. Detected ten hereditary forms of neurodegeneration with brain iron accumulation and their associated disorders gene. The most common of them is a mutation of the gene encoding pantothenate kinase 2 (PANK2). Eight of the ten genetically defined types of NBIA are inherited in an autosomal recessive manner.
The diagnosis is established on the basis of clinical findings and magnetic resonance imaging (MRI) showing the deposition of iron in the basal ganglia. The form associated with pantothenate kinase characteristic “eye of the tiger“ sign on the magnetic resonance image of the brain. The final diagnosis was confirmed by molecular genetic testing detectings mutations in genes that encode proteins involved in iron metabolism.
Treatment is symptomatic and mainly limited to the alleviation of symptoms and prevention of secondary complications reduce the quality of life and cause premature death.

• Keywords: neurodegenerativna bolest; odlaganje željeza; distonija; pantotenat kinaza; znak „tigrovog oka“
• Keywords (english): neurodegeneration; iron accumulation; dystonia; pantothenate kinase 2; “eye of the tiger“ sign
• Language: croatian
• URN:NBN: urn:nbn:hr:105:954664
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2016-08-10 07:56:22