Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)

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83 relevant articles (2 outcomes, 4 trials/studies) found for this Disease

Description: 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)

Also Known As:

Neuroaxonal Dystrophy, Late Infantile; Neuroaxonal Dystrophy; Adult Neuroaxonal Dystrophy; Infantile Neuroaxonal Dystrophy; Juvenile Neuroaxonal Dystrophy; Late Infantile Neuroaxonal Dystrophy; Neuroaxonal Dystrophy, Adult; Neuroaxonal Dystrophy, Infantile; Adult Neuroaxonal Dystrophies; Disease, Seitelberger's; Dystrophies, Adult Neuroaxonal; Dystrophies, Infantile Neuroaxonal; Dystrophies, Juvenile Neuroaxonal; Dystrophies, Neuroaxonal; Dystrophy, Adult Neuroaxonal; Dystrophy, Infantile Neuroaxonal; Dystrophy, Juvenile Neuroaxonal; Dystrophy, Neuroaxonal; Infantile Neuroaxonal Dystrophies; Juvenile Neuroaxonal Dystrophies; Neuroaxonal Dystrophies, Adult; Neuroaxonal Dystrophies, Infantile; Neuroaxonal Dystrophies, Juvenile; Seitelberger Disease; Seitelbergers Disease; Neuroaxonal Dystrophy, Juvenile; Seitelberger's Disease

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 3424

Central Nervous System Diseases: 931

Brain Diseases: 1121

Neuroaxonal Dystrophies: 83

Pantothenate Kinase-Associated Neurodegeneration: 116

Related Diseases

1.	Angiokeratoma
2.	Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)
3.	Syndrome
4.	Diabetic Neuropathies (Diabetic Neuropathy)
5.	Neurodegenerative Diseases (Neurodegenerative Disease)

Experts

1.	Matsuoka, Yosuke: 1 article (02/2008)
2.	Sumi, Hisae: 1 article (02/2008)
3.	Shinzawa, Koei: 1 article (02/2008)
4.	Okabe, Masaru: 1 article (02/2008)
5.	Sakoda, Saburo: 1 article (02/2008)
6.	Ikawa, Masahito: 1 article (02/2008)
7.	Tsujimoto, Yoshihide: 1 article (02/2008)
8.	Mutlu, H: 1 article (06/2006)
9.	Sonmez, G: 1 article (06/2006)
10.	Ozturk, E: 1 article (06/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neuroaxonal Dystrophies:

1.	alpha-N-Acetylgalactosaminidase (N-Acetyl-alpha-D-Galactosaminidase)IBA 08/01/1991 - "Known causes of the cutaneous manifestation were eliminated by enzyme analyses, and further characterization of the accumulated urinary O-linked sialopeptides revealed identity to those excreted by patients with an infantile neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency" 01/01/1990 - "Of eight unrelated patients diagnosed as having infantile neuroaxonal dystrophy by pathological studies, none had deficient alpha-N-acetylgalactosaminidase activity, emphasizing the biochemical heterogeneity underlying this diagnostic entity" 02/01/2001 - "Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?" 09/01/1995 - "Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency." 04/01/1993 - "CONCLUSIONS--Since this enzyme deficiency was previously identified in patients with an infantile form of inherited neuroaxonal dystrophy, the occurrence of the enzymopathy in the 46-year-old proband described herein represents an adult-onset form of alpha-N-acetylgalactosaminidase deficiency" Order ALL the reference details at left...
2.	Lactic Acid FDA LinkGeneric 04/01/2001 - "As the diagnosis of infantile neuroaxonal dystrophy is made by a synopsis of various clinical, neuropathological, neurophysiological, and neuroradiological data, the presence of lactate in the basal ganglia spectra may help to narrow down the diagnosis and can support the decision to perform more invasive diagnostic procedures (such as biopsies of skin, conjunctiva or even of the brain)." 10/01/1991 - "Increased signal intensity from lactate occurred in patients with Leigh disease, neuroaxonal dystrophy, Schilder disease, and Cockayne disease, which indicated a disturbed energy metabolism in the examined region" 04/01/2001 - "Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD)." Order ALL the reference details at left...
3.	NAD (NADH)IBA 10/01/2006 - "Our ultrastructural neuropathologic studies of the sympathetic innervation of the pineal gland of aged (24 months old) Fischer-344 and Sprague-Dawley rats showed loss of nerve terminals as well as the development of neuroaxonal dystrophy (NAD), an ultrastructurally distinctive distal axonopathy, far in excess of that in young control rats" 10/01/2007 - "Neuroaxonal dystrophy (NAD) was examined in two Papillon dogs and a mix breed dog between Papillon and Chihuahua" 11/01/2004 - "In both humans and animal models, diabetic sympathetic autonomic neuropathy is associated with the selective development of markedly enlarged distal axons and nerve terminals (neuroaxonal dystrophy, NAD)" 05/01/2004 - "Neuroaxonal dystrophy (NAD), a distinctive distal axonopathy involving terminal axons and synapses, represents the neuropathologic hallmark of diabetic sympathetic autonomic neuropathy in man and several insulinopenic experimental rodent models" 07/01/2003 - "Neuroaxonal dystrophy (NAD), a distinctive axonopathy involving distal axons and synapses, represents the neuropathologic hallmark of diabetic sympathetic autonomic neuropathy in human and several insulinopenic experimental rodent models" Order ALL the reference details at left...
4.	SialoglycoproteinsIBA 08/01/1991 - "These studies document the occurrence of two forms of alpha-N-acetylgalactosaminidase deficiency and sialopeptiduria, a severe infantile-onset form of neuroaxonal dystrophy without angiokeratoma or visceral lysosomal inclusions and an adult-onset form characterized by angiokeratoma, extensive lysosomal accumulation of sialoglycopeptides and the absence of detectable neurologic involvement." Order ALL the reference details at left...
5.	Crystallins (Crystallin)IBA 04/01/2003 - "Therefore, extra-ocular alphaA-crystallin-expressing transgenic mice may serve as a useful animal model to study neuroaxonal dystrophy." Order ALL the reference details at left...
6.	Iron (Serum Iron Level)IBA 10/28/2008 - "PLA2G6 mutations are associated with nearly all cases of classic infantile neuroaxonal dystrophy but a minority of cases of idiopathic neurodegeneration with brain iron accumulation, and genotype correlates with phenotype" 04/29/2008 - "Although patients with PLAN have previously been diagnosed with infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome, they display a characteristic clinical and radiologic phenotype" 02/27/2008 - "These findings provide evidence that impairment of iPLA2beta causes neuroaxonal degeneration, and indicate that the iPLA2beta-/- mouse is an appropriate animal model of human neurodegenerative diseases associated with mutations of the iPLA2beta gene, such as infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation." 02/01/2007 - "BACKGROUND: Neurodegeneration with brain iron accumulation is a rare neurodegenerative disorder characterized by iron deposition in the basal ganglia and neuroaxonal dystrophy" 02/01/1991 - "Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a "presenile dementia." At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex" Order ALL the reference details at left...
7.	Streptozocin (Streptozotocin)FDA Link 12/01/1998 - "We have developed an animal model of diabetic autonomic neuropathy characterized by neuroaxonal dystrophy involving ileal mesenteric nerves and prevertebral sympathetic superior mesenteric ganglia (SMG) in chronic streptozocin-diabetic rats" 09/18/1989 - "The frequency of neuroaxonal dystrophy was determined in the superior mesenteric/celiac sympathetic ganglia in a streptozocin-treated rat model of diabetic autonomic neuropathy" 04/01/2005 - "We have developed an animal model of diabetic sympathetic autonomic neuropathy which is characterized by neuroaxonal dystrophy (NAD), an ultrastructurally distinctive axonopathy, in chronic streptozotocin (STZ)-diabetic rats" 03/01/1996 - "Effect of aminoguanidine on the frequency of neuroaxonal dystrophy in the superior mesenteric sympathetic autonomic ganglia of rats with streptozocin-induced diabetes." 09/18/1989 - "The effect of pancreatic islet transplantation and insulin therapy on neuroaxonal dystrophy in sympathetic autonomic ganglia of chronic streptozocin-diabetic rats." Order ALL the reference details at left...
8.	alpha-SynucleinIBA 03/01/2000 - "The present case, together with a few similar cases reported previously, may represent a particular subset of neuroaxonal dystrophy, i.e., HSD associated with extensive accumulation of both tau and alpha-synuclein." 12/01/1999 - "Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury." 11/01/2001 - "Dystrophic axons in a 2-year-old male Rottweiler with neuroaxonal dystrophy have shown synaptophysin, synapsin-I, synaptosomal-associated protein of 25 kDa (SNAP-25), Rab 3a, and alpha-synuclein immunoreactivity" Order ALL the reference details at left...
9.	Nerve Growth Factor (NGF)IBA 06/09/2000 - "These observations suggest that increased NGF content in sympathetic ganglia innervating the diabetic alimentary tract coupled with intact receptor expression may produce aberrant axonal sprouting and neuroaxonal dystrophy." 07/01/1995 - "Effect of chronic autoimmune nerve growth factor deprivation on sympathetic neuroaxonal dystrophy in rats." 03/01/2001 - "Treatment of STZ-diabetic rats for 2-3 months with pharmacologic doses of NGF or NT-3, neurotrophic substances with known effects on the adult sympathetic nervous system, did not normalize established neuroaxonal dystrophy (NAD) in diabetic rats in the prevertebral superior mesenteric ganglia (SMG) and ileal mesenteric nerves as had pancreatic islet transplantation and IGF-I in earlier experiments" Order ALL the reference details at left...
10.	Insulin-Like Growth Factor I (IGF-1)IBA 09/08/2000 - "Effect of IGF-I and neurotrophin-3 on gracile neuroaxonal dystrophy in diabetic and aging rats." 11/01/1999 - "Two months of IGF-I treatment of chronically diabetic rats with established neuroaxonal dystrophy (the neuropathological hallmark of the disease) involving the superior mesenteric ganglion and ileal mesenteric nerves resulted in nearly complete normalization of the frequency of neuroaxonal dystrophy in both sites without altering the severity of diabetes" 11/01/1999 - "Treatment with low-dose insulin (to control for the transient glucose-lowering effects of IGF-I) failed to affect the frequency of ganglionic or mesenteric nerve neuroaxonal dystrophy or the severity of diabetes" 03/01/2001 - "Treatment of STZ-diabetic rats for 2-3 months with pharmacologic doses of NGF or NT-3, neurotrophic substances with known effects on the adult sympathetic nervous system, did not normalize established neuroaxonal dystrophy (NAD) in diabetic rats in the prevertebral superior mesenteric ganglia (SMG) and ileal mesenteric nerves as had pancreatic islet transplantation and IGF-I in earlier experiments" Order ALL the reference details at left...

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 09/18/1989 - "The effect of pancreatic islet transplantation and insulin therapy on neuroaxonal dystrophy in sympathetic autonomic ganglia of chronic streptozocin-diabetic rats." 03/01/2001 - "Treatment of STZ-diabetic rats for 2-3 months with pharmacologic doses of NGF or NT-3, neurotrophic substances with known effects on the adult sympathetic nervous system, did not normalize established neuroaxonal dystrophy (NAD) in diabetic rats in the prevertebral superior mesenteric ganglia (SMG) and ileal mesenteric nerves as had pancreatic islet transplantation and IGF-I in earlier experiments" Order ALL the reference details at left...
2.	Denervation 12/01/1979 - "The presence of high voltage, fast rhythms in the EEG and signs of denervation of an anterior horn-cell type at EMG, with normal nerve conduction velocities, is frequent additional evidence in favour of infantile neuroaxonal dystrophy" Order ALL the reference details at left...

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