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Descriptor English: Neuroaxonal Dystrophies
Descriptor Spanish: Distrofias Neuroaxonales
Descriptor distrofias neuroaxónicas
Entry term(s) distrofia neuroaxónica juvenil
enfermedad de Seitelberg
Scope note: 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)
Descriptor Portuguese: Distrofias Neuroaxonais
Descriptor French: Dystrophies neuroaxonales
Entry term(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
Tree number(s): C10.228.140.744
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D019150
Scope note: 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)
Allowable Qualifiers: 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
Public MeSH Note: 1997
History Note: 1997
DeCS ID: 32947
Unique ID: D019150
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1997/01/01
Date of Entry: 1996/06/10
Revision Date: 2013/07/08
Neuroaxonal Dystrophies - Preferred
Concept UI M0028551
Scope note 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)
Preferred term Neuroaxonal Dystrophies
Entry term(s) Dystrophy, Neuroaxonal
NBIA2A
Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy - Narrower
Concept UI M0335765
Preferred term Late Infantile Neuroaxonal Dystrophy
Entry term(s) Neuroaxonal Dystrophy, Late Infantile
Juvenile Neuroaxonal Dystrophy - Narrower
Concept UI M0335763
Preferred term Juvenile Neuroaxonal Dystrophy
Entry term(s) Dystrophy, Juvenile Neuroaxonal
Neuroaxonal Dystrophy, Juvenile
Adult Neuroaxonal Dystrophy - Narrower
Concept UI M0335764
Preferred term Adult Neuroaxonal Dystrophy
Entry term(s) Dystrophy, Adult Neuroaxonal
Neuroaxonal Dystrophy, Adult
Infantile Neuroaxonal Dystrophy - Narrower
Concept UI M0028550
Preferred term Infantile Neuroaxonal Dystrophy
Entry term(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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