KEGG   DISEASE: Juvenile primary lateral sclerosis
Entry
H00970                      Disease                                
Name
Juvenile primary lateral sclerosis
Description
Juvenile primary lateral sclerosis (JPLS) is a very rare progressive paralytic disorder characterized by increasing weakness and stiffness of muscles in the arms, legs and face. Although primary lateral sclerosis  is a sporadic disorder of adult middle age, this disease is also observed in children as JPLS. JPLS arises from dysfunction of the upper motoneurons and the causative gene is ALS2.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Motor neuron diseases or related disorders
   8B60  Motor neuron disease
    H00970  Juvenile primary lateral sclerosis
Gene
ALS2 [HSA:57679] [KO:K04575]
Other DBs
ICD-11: 8B60.4
MeSH: C536416
OMIM: 606353
Reference
  Authors
Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT
  Title
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
  Journal
Brain 129:1710-9 (2006)
DOI:10.1093/brain/awl104
Reference
  Authors
Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE
  Title
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
  Journal
Neurochem Int 51:74-84 (2007)
DOI:10.1016/j.neuint.2007.04.010
Reference
PMID:2812336
  Authors
Grunnet ML, Leicher C, Zimmerman A, Zalneraitis E, Barwick M
  Title
Primary lateral sclerosis in a child.
  Journal
Neurology 39:1530-2 (1989)
DOI:10.1212/WNL.39.11.1530
Reference
PMID:8719747
  Authors
Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, Siddique T
  Title
Familial childhood primary lateral sclerosis with associated gaze paresis.
  Journal
Neuropediatrics 26:313-9 (1995)
DOI:10.1055/s-2007-979781
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