Uncommon – monogenetic – causes of small-vessel stroke

Klinika Neurologii i Epileptologii z Oddziałem Udarowym Uniwersyteckiego Szpitala Klinicznego im. WAM,
Uniwersytet Medyczny w Łodzi
Adres do korespondencji: Klinika Neurologii i Epileptologii z Oddziałem Udarowym, Uniwersytet Medyczny w Łodzi, USK im. WAM,
ul. Żeromskiego 113, 90-546 Łódź, e-mail: centurio@mp.pl, magda-kacperska@o2.pl
Praca finansowana z grantów UM w Łodzi nr 502-03/5-062-01/502-54-102 oraz 502-03/5-062-01/502-54-111
Pierwszy i drugi autor zgłaszają równoważny wkład pracy w przygotowanie artykułu

AKTUALN NEUROL 2014, 14 (1), p. 34–42
DOI: 10.15557/AN.2014.0004

A brain stroke is the most common cause of disability and the third cause of mortality among adults. Every year 6.15 million people in the world die of stroke. According to a current and commonly used WHO definition, the stroke is a rapid occurrence of focal or global neurological deficit of strictly cerebrovascular cause that persists beyond 24 hours. It is estimated that even up to 85–90% of strokes is caused by an ischaemic aetiology, the remainder by haemorrhagic or subarachnoid bleeding. The aim of the paper is to acquaint clinicians with rare, nevertheless occurring in practice genetic causes of strokes connected with single gene mutation. The mentioned disorders are included in a wide spectrum of so called nonhypertensive, cerebral small-vessel diseases. Commonly they occur with concomitant syndromes such as progressive cognitive disturbances or spinal chronic pain syndromes. The multitude of disorders of theoretically unrelated organs also should be alarming although, according to the literature, there are known some oligosymptomatic cases. Additionally, in many cases, unclear radiological image seems to suggest the need for further investigations. After reading this article, clinicians should keep in mind that they especially inquisitively need to search for the reason of stroke in young patients without obvious hypertension in anamnesis, with recurrent vascular episodes, with abnormalities on physical examination that suggest the presence of certain complex of syndromes. Simultaneously, coexistence of typical risk factors such as using drugs affecting thrombosis, arterial hypertension or metabolic disorders should not excuse ignoring the rare diseases. An interdisciplinary team-work of specialists of cardiology, nephrology, dermatology or genetics seems to be invaluable for establishing the diagnosis in this cases.

Keywords: brain stroke, small vessel disease, monogenetic disorders, CADASIL, CARASIL, Fabry’s disease, microangiopathy related with COL4A1 gene mutation, amyloid angiopathy