Comorbidities in patients with Unverricht–Lundborg disease ( EPM1 )

Abstract

Progressive myoclonic epilepsy-1A (EPM1) (OMIM #254800), or myoclonic epilepsy of Unverricht and Lundborg, is a rare neurodegenerative disorder. Its most common manifestations are myoclonus, seizures, ataxia and cognitive decline. [1][2][3][4] The disorder is caused by cystatin B (CSTB) gene mutations and inherited recessively. 4 CSTB codes a small protein called Stefin B/cystatin B that functions as an intracellular thiol protease inhibitor. It has been isolated from human spleen and liver and shows biased expression in oesophagus and urinary bladder but is widely distributed. Current information points to it having a role in protecting against the proteinases leaking from lysosomes, but its function is inadequately understood.The clinical course of EPM1 is variable but and early retirement. 1,2,5 Beyond the nervous system, abnormal skeletal findings have been reported, 6 but little information is available concerning

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

“…As far as the comorbidities and mortality rates of ULD are concerned, we know from a single-center longitudinal study in Finland that patients with ULD tend to suffer from previously unappreciated comorbidities, including external injuries (e.g., ankle fractures), diabetes, and depression [28]. This study complements another Finnish study of 135 patients with ULD that demonstrated comparable survival rates with age-matched controls up to the age of 40, after which patients with ULD had worsening survival rates [29].…”

The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1

“…The mental status of the patients is alert, but depression and mild decline in intellectual performance are seen as the disease progresses. Many patients also show comorbidities, with the common categories being behavioral disorders, endocrine disease, external injuries and mental, metabolic and nutritional diseases [30].…”