Presentation
Hallmarks of neuronal ceroid lipofuscinosis were present. [hal.archives-ouvertes.fr]
Acta-Neuropathol-(Berl). 1998 Jul; 96(1): 102-8 Gambardella,-A; Pasquinelli,-G; Cittadella,-R; Bono,-F; Oliveri,-R-L; Valentino,-P; Zappia,-M; Quattrone,-A; Aguglia,-U Kufs' disease presenting as late-onset epilepsia partialis continua. [malattierare.regione.veneto.it]
Neurologic
- Spastic Paraplegia
Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). [keyopinionleaders.com]
A new phenotype associated with homozygous GRN mutations: complicated spastic paraplegia. Eur J Neurol. 2017 Jan;24(1):e3-e4. doi: 10.1111/ene.13194. [medlineplus.gov]
- Encephalopathy
BACKGROUND & AIMS: Hepatic encephalopathy (HE) is a neurological complication observed in patients with liver disease and/or porto-systemic shunt. [keyopinionleaders.com]
- Irritability
They may also become irritable and impulsive. Some affected individuals experience visual hallucinations involving people or animals. CLN11 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). [medlineplus.gov]
Treatment
Current and emerging treatment strategies for neuronal ceroid lipofuscinoses. CNS Drugs. 2019;33(4):315-25. doi: 10.1007/s40263-019-00620-8. [ Links ] 8. Mole S, Williams R, Goebel H. [scielo.org.co]
Prognosis
BackgroundFabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. [keyopinionleaders.com]
Etiology
The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. [keyopinionleaders.com]
Epidemiology
We aimed to determine the epidemiology and the functional characteristics of anti-drug antibodies. Patients from the French multicenter ... Known for Fabry Disease | Classic Phenotype | Drug Antibodies | Enzyme Replacement KOL-Index: 7361. [keyopinionleaders.com]
Pathophysiology
However, the pathophysiological mechanisms of HE remain poorly ... [keyopinionleaders.com]