Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary nonhypertensive cause of recurrent lacunar stroke and cognitive decline associated with alopecia, spondylosis deformans, and lumbago.1 The disease has been linked to mutations in the HTRA1 gene, encoding for serine protease HTRA1, loss of which causes dysregulation of transforming growth factor-β signaling.2
Bianchi, S., Di Palma, C., Gallus, G.N., Taglia, I., Poggiani, A., Rosini, F., et al. (2014). Two novel HTRA1 mutations in a European CARASIL patient. NEUROLOGY, 82(10), 898-900 [10.1212/WNL.0000000000000202].
Two novel HTRA1 mutations in a European CARASIL patient.
BIANCHI, SILVIA;GALLUS, GIAN NICOLA;ROSINI, FRANCESCA;RUFA, ALESSANDRA;DOTTI, MARIA;FEDERICO, ANTONIO
2014-01-01
Abstract
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary nonhypertensive cause of recurrent lacunar stroke and cognitive decline associated with alopecia, spondylosis deformans, and lumbago.1 The disease has been linked to mutations in the HTRA1 gene, encoding for serine protease HTRA1, loss of which causes dysregulation of transforming growth factor-β signaling.2
| File | Dimensione | Formato | |
|---|---|---|---|
|
bianchi.pdf
non disponibili
Tipologia:
Pre-print
Licenza:
Creative commons
Dimensione
498.77 kB
Formato
Adobe PDF
|
498.77 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/46587
Attenzione
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo