-
January 1993). "Neuronal Ceroid-
Lipofuscinoses –
RETIRED CHAPTER, FOR
HISTORICAL REFERENCE ONLY".
Neuronal Ceroid-
Lipofuscinoses.
University of Washington,...
- the
common name for a
group of
disorders called the
neuronal ceroid lipofuscinoses (NCLs).
Although Batten disease is
usually regarded as the juvenile...
- PMID 23669245. Mole, SE; Williams, Ruth E. (1993). "Neuronal Ceroid-
Lipofuscinoses –
RETIRED CHAPTER, FOR
HISTORICAL REFERENCE ONLY". In Adam, Margaret...
-
protein that in
humans is
encoded by the CLN5 gene. The
neuronal ceroid lipofuscinoses (CLN or NCL) are a
group of
autosomal recessive,
progressive encephalopathies...
-
Infantile neuronal ceroid lipofuscinoses (INCL) or
Santavuori disease or Hagberg–Santavuori
disease or Santavuori–Haltia
disease or
Infantile Finnish type...
- (1993). "Neuronal Ceroid-
Lipofuscinoses –
RETIRED CHAPTER, FOR
HISTORICAL REFERENCE ONLY".
Neuronal Ceroid-
Lipofuscinoses. GeneReviews. PMID 20301601...
-
Differential diagnosis Sandhoff disease,
Leigh syndrome,
neuronal ceroid lipofuscinoses Treatment Supportive care,
psychosocial support Prognosis Death often...
- age of
onset is
between 6–15 years,
while in
Adult Neuronal ceroid lipofuscinoses (Adult NCL) the age of
onset can be as late as 30.
Symptoms often include...
-
activated and
autoproteolyzed upon acidification. The
neuronal ceroid lipofuscinoses (NCLs) are a
group of
inherited neurodegenerative disorders with pathological...
- deficiency)
Lipidoses Niemann–Pick
disease type C Type D
Neuronal ceroid lipofuscinoses Type 1 Santavuori–Haltia
disease /
infantile NCL (CLN1 PPT1) Type 2...
