Pesquisa
Descritor em português: Distrofias Neuroaxonais
Descritor em inglês: Neuroaxonal Dystrophies
Descritor em espanhol: Distrofias Neuroaxonales
Descritor distrofias neuroaxónicas
Termo(s) alternativo(s) distrofia neuroaxónica juvenil
enfermedad de Seitelberg
Nota de escopo: Término inespecífico que hace referencia al hallazgo anatomopatológico de una dilatación de las porciones distales de los axones en el cerebro y a los trastornos caracterizados por este hallazgo. Se observa la distrofia neuroaxónica en varias enfermedades genéticas, deficiencias vitamínicas, y durante el envejecimiento. La distrofia neuroaxónica infantil es una enfermedad autosómica recesiva que se caracteriza por detención del desarrollo psicomotor entre los 6 meses y los 2 años de edad, ataxia, disfunción del tronco encefálico y cuadriparesia. También hay formas juvenil y adulta. Los hallazgos anatomopatológicos incluyen atrofia cerebral y acumulación generalizada de esferoides axónicos a lo largo del neuroeje, nervios periféricos y pulpa dental. (Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Descritor em francês: Dystrophies neuroaxonales
Termo(s) alternativo(s): Adult Neuroaxonal Dystrophy
Disease, Seitelberger
Disease, Seitelberger's
Dystrophy, Adult Neuroaxonal
Dystrophy, Infantile Neuroaxonal
Dystrophy, Juvenile Neuroaxonal
Dystrophy, Neuroaxonal
Infantile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy
NBIA, PLA2G6 Related
NBIA, PLA2G6-Related
NBIA2A
Neuroaxonal Dystrophy
Neuroaxonal Dystrophy, Adult
Neuroaxonal Dystrophy, Infantile
Neuroaxonal Dystrophy, Juvenile
Neuroaxonal Dystrophy, Late Infantile
Neurodegeneration With Brain Iron Accumulation 2A
Neurodegeneration, PLA2G6 Associated
Neurodegeneration, PLA2G6-Associated
PLA2G6-Associated Neurodegeneration
PLA2G6-Related NBIA
Seitelberger Disease
Seitelberger's Disease
Seitelbergers Disease
Código(s) hierárquico(s): C10.228.140.744
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D019150
Nota de escopo: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Qualificadores permitidos: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Nota MeSH pública: 1997
Nota histórica: 1997
Identificador DeCS: 32947
ID do descritor: D019150
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/1997
Data de entrada: 10/06/1996
Data de revisão: 08/07/2013
Neuroaxonal Dystrophies - Conceito preferido
Identificador do conceito M0028551
Nota de escopo A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Termo preferido Neuroaxonal Dystrophies
Termo(s) alternativo(s) Dystrophy, Neuroaxonal
NBIA2A
Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy - Mais específico
Identificador do conceito M0335765
Termo preferido Late Infantile Neuroaxonal Dystrophy
Termo(s) alternativo(s) Neuroaxonal Dystrophy, Late Infantile
Juvenile Neuroaxonal Dystrophy - Mais específico
Identificador do conceito M0335763
Termo preferido Juvenile Neuroaxonal Dystrophy
Termo(s) alternativo(s) Dystrophy, Juvenile Neuroaxonal
Neuroaxonal Dystrophy, Juvenile
Adult Neuroaxonal Dystrophy - Mais específico
Identificador do conceito M0335764
Termo preferido Adult Neuroaxonal Dystrophy
Termo(s) alternativo(s) Dystrophy, Adult Neuroaxonal
Neuroaxonal Dystrophy, Adult
Infantile Neuroaxonal Dystrophy - Mais específico
Identificador do conceito M0028550
Termo preferido Infantile Neuroaxonal Dystrophy
Termo(s) alternativo(s) Disease, Seitelberger
Disease, Seitelberger's
Dystrophy, Infantile Neuroaxonal
NBIA, PLA2G6 Related
NBIA, PLA2G6-Related
Neuroaxonal Dystrophy, Infantile
Neurodegeneration With Brain Iron Accumulation 2A
Neurodegeneration, PLA2G6 Associated
Neurodegeneration, PLA2G6-Associated
PLA2G6-Associated Neurodegeneration
PLA2G6-Related NBIA
Seitelberger Disease
Seitelberger's Disease
Seitelbergers Disease



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