Neuroaxonala dystrofier
Ett ospecifikt begrepp som hänför sig både till svullnande, distala delar av axoner i hjärnan som en patologisk process och till sjukdomar med dessa tecken som symtom. Neuroaxonal dystrofi ses vid olika genetiska sjukdomar, vitaminbrist och åldrande. Infantil neuroaxonal dystrofi är en autosomal, recessiv sjukdom som kännetecknas av avstannande psykomotorisk utveckling i åldrarna 6 månader till två år, ataxi, bristande hjärnstamsfunktion och kvadripares. Det finns även ungdoms- och vuxenformer. Patologiska fynd omfattar hjärnatrofi och utbredda ansamlingar av kulformiga axonbildningar i hela nervaxis, perifera nerver och tandpulpan.
Förklaring på engelska
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)
Synonym, svenska: Seitelbergers sjukdom
Synonym, engelska: Dystrophy, Neuroaxonal; Neuroaxonal Dystrophy; NBIA2A; Late Infantile Neuroaxonal Dystrophy; Neuroaxonal Dystrophy, Late Infantile; Juvenile Neuroaxonal Dystrophy; Dystrophy, Juvenile Neuroaxonal; Neuroaxonal Dystrophy, Juvenile; Adult Neuroaxonal Dystrophy; Dystrophy, Adult Neuroaxonal; Neuroaxonal Dystrophy, Adult; Infantile Neuroaxonal Dystrophy; Dystrophy, Infantile Neuroaxonal; Neuroaxonal Dystrophy, Infantile; Seitelberger’s Disease; Disease, Seitelberger’s; Seitelbergers Disease; Neurodegeneration, PLA2G6-Associated; Neurodegeneration, PLA2G6 Associated; PLA2G6-Associated Neurodegeneration; Seitelberger Disease; Disease, Seitelberger; NBIA, PLA2G6-Related; NBIA, PLA2G6 Related; PLA2G6-Related NBIA; Neurodegeneration With Brain Iron Accumulation 2A
| Svensk term | Neuroaxonala dystrofier |
| Synonym på svenska | Seitelbergers sjukdom |
| Synonym på engelska | Dystrophy, Neuroaxonal; Neuroaxonal Dystrophy; NBIA2A; Late Infantile Neuroaxonal Dystrophy; Neuroaxonal Dystrophy, Late Infantile; Juvenile Neuroaxonal Dystrophy; Dystrophy, Juvenile Neuroaxonal; Neuroaxonal Dystrophy, Juvenile; Adult Neuroaxonal Dystrophy; Dystrophy, Adult Neuroaxonal; Neuroaxonal Dystrophy, Adult; Infantile Neuroaxonal Dystrophy; Dystrophy, Infantile Neuroaxonal; Neuroaxonal Dystrophy, Infantile; Seitelberger’s Disease; Disease, Seitelberger’s; Seitelbergers Disease; Neurodegeneration, PLA2G6-Associated; Neurodegeneration, PLA2G6 Associated; PLA2G6-Associated Neurodegeneration; Seitelberger Disease; Disease, Seitelberger; NBIA, PLA2G6-Related; NBIA, PLA2G6 Related; PLA2G6-Related NBIA; Neurodegeneration With Brain Iron Accumulation 2A |
| Engelsk term | Neuroaxonal Dystrophies |
| MESH ID | D019150 |