Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Kufs disease: clinical features and forms.

S F Berkovic1, F Andermann, E Andermann

  • 1Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

American Journal of Medical Genetics. Supplement
|January 1, 1988
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Clinical genetics·2013
Same author

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Clinical genetics·2012
Same author

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Annals of neurology·2009
Same author

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Neurology·2009
Same author

Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures.

Neurology·2008
Same author

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

Neurology·2007
Same journal

Down syndrome critical region around D21S55 on proximal 21q22.3.

American journal of medical genetics. Supplement·1990
Same journal

Down syndrome: toward a molecular definition of the phenotype.

American journal of medical genetics. Supplement·1990
Same journal

Down syndrome in Kuwait.

American journal of medical genetics. Supplement·1990
Same journal

Down syndrome in the Belluno district (Veneto region, northeast Italy): age distribution and morbidity.

American journal of medical genetics. Supplement·1990
Same journal

Epidemiology of Down syndrome in 118,265 consecutive births.

American journal of medical genetics. Supplement·1990
Same journal

Incidence, survival, and mortality in Down syndrome in Denmark.

American journal of medical genetics. Supplement·1990
See all related articles

Kufs disease, a rare neurological disorder, has two main forms: Type A with epilepsy and Type B with dementia. Distinguishing these clinical subtypes is crucial for diagnosis and understanding neuronal ceroid-lipofuscinosis (NCL).

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Kufs disease is a rare, fatal neurodegenerative disorder.
  • It is characterized by progressive neurological decline.
  • Two major clinical forms, Type A and Type B, are recognized.

Observation:

  • Type A Kufs disease presents with progressive myoclonus epilepsy.
  • Type B Kufs disease manifests with dementia and extra-pyramidal signs.
  • Adolescent neuronal ceroid-lipofuscinosis (NCL) subgroups resemble Kufs disease types or present with visual failure.

Findings:

  • Clinical differentiation of Kufs disease subtypes is now possible.
  • Biopsy diagnosis offers a method for in-life confirmation.
  • Early identification of Kufs disease subtypes aids in patient management.

Related Experiment Videos

Implications:

  • Delineating Kufs disease clinical syndromes facilitates accurate diagnosis.
  • Further research into biochemical defects is needed to confirm biological significance.
  • Improved diagnostic capabilities enhance understanding of NCL spectrum disorders.