منابع مشابه
Vagus nerve stimulation in Lafora body disease☆
INTRODUCTION Lafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic-clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical and genetic differences, as well...
متن کاملEverolimus does not prevent Lafora body formation in murine Lafora disease
Healthy teenagers until the onset of Lafora disease (LD), patients may experience decade-long progressive and soon-intractable myoclonus, epilepsy, psychosis and dementia culminating in a vegetative state, and death in status epilepticus. The causative defects are loss-of-function mutations in the genes encoding the interacting enzymes laforin (EPM2A glycogen phosphatase) and malin (EPM2B ubiqu...
متن کاملEarly Onset Alzheimer’s Disease
PPA: Primary Progressive Aphasia; PIA: Progressive Ideomotor Apraxia; CPAP: Continuous Positive Airway Pressure; MoCA: Montreal Cognitive Assessment; MINI: Mini-International Neuropsychiatric Interview; WASI: Wechsler Abbreviated Scale of Intelligence; RBANS: Repeatable Battery for the Assessment of Neuropsychological Status; DRS: Dementia Rating Scale TMT-A & B: Trail Making Test-A and B; GAD-...
متن کاملEarly Onset Alzheimer’s Disease
PPA: Primary Progressive Aphasia; PIA: Progressive Ideomotor Apraxia; CPAP: Continuous Positive Airway Pressure; MoCA: Montreal Cognitive Assessment; MINI: Mini-International Neuropsychiatric Interview; WASI: Wechsler Abbreviated Scale of Intelligence; RBANS: Repeatable Battery for the Assessment of Neuropsychological Status; DRS: Dementia Rating Scale TMT-A & B: Trail Making Test-A and B; GAD-...
متن کاملGlycogen hyperphosphorylation underlies lafora body formation.
OBJECTIVE Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its function, through extreme branching. Lafora bodies are aggregates of polyglucosan, a long, linear, poorly branched, and insoluble form of glycogen. Lafora bodies occupy vast numbers of neuronal dendrites and perikarya in Lafora disease in time-dependent fashion, leading to intractable and fatal progre...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Brain
سال: 2012
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/aws205