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Neuroaxonal dystrophy

MONDO:0002283

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)

20 clinical trials for this condition and its sub-types.

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Sub-types

Neurodegeneration with brain iron accumulation 5 (4) Pantothenate kinase-associated neurodegeneration (3) PLA2G6-associated neurodegeneration (1) Aceruloplasminemia (0) Atypical pantothenate kinase-associated neurodegeneration (0) Autosomal recessive Parkinson disease 14 (0) Classic pantothenate kinase-associated neurodegeneration (0) Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (0) Fatty acid hydroxylase-associated neurodegeneration (0) Kufor-Rakeb syndrome (0) Neuroaxonal dystrophy renal tubular acidosis (0) Neurodegeneration with brain iron accumulation (0) Neurodegeneration with brain iron accumulation 2A (0) Neurodegeneration with brain iron accumulation 2B (0) Neurodegeneration with brain iron accumulation 4 (0) Neurodegeneration with brain iron accumulation 6 (0) Neurodegeneration with brain iron accumulation 7 (0) Neurodegeneration with brain iron accumulation 8 (0) Neurodegeneration with brain iron accumulation 9 (0) Neuroferritinopathy (0)

Broader categories

Disease (618) Nervous system disorder (217) Neurodegenerative disease (155) Central nervous system disorder (97) Human disease (14) Disease by body system or component (0)
Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 4 Completed 7
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