Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031117 (peripheral neuropathy)
 10,577 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient with symptomatic adrenoleukodystrophy (ALD) heterozygote, a 57-year-old female, who manifested fluctuated neurological symptoms. She is a mother of the patient with adrenoleukomyeloneuropathy associated with hypoparathyroidism and cerebral calcification. The heterozygote of ALD was diagnosed by elevated levels of very long chain fatty acids in her plasma and erythrocyte membranes. At age 51, she had a disturbance of consciousness, which subsided two months later. Neurologically, bilateral pyramidal tract signs were noted. CT revealed low-density areas in the white matter neighboring the bilateral anterior horns of lateral ventricles and small calcification in the basal ganglia. Four years later, her neurological manifestations including gait disturbance and mental deterioration subacutely progressed. MRI (T2-weighted image) showed diffuse high intensity areas in the cerebral white matter. Adrenal insufficiency, hypoparathyroidism and peripheral neuropathy were not detected. It has been reported that some ALD heterozygotes developed neurological symptoms, which resembled those of the patients with adrenomyeloneuropathy. The presented patient manifested neurological symptoms with fluctuation, which was not common clinical course in the heterozygotes of ALD. On the differential diagnosis of neurological diseases such as multiple sclerosis, cerebrovascular disease or other cerebral white matter diseases, it is important to consider the possibility of ALD heterozygotes.
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PMID:[Symptomatic adrenoleukodystrophy heterozygote with fluctuated neurological symptoms--a case report]. 176 63

A 17-year-old male was admitted to our hospital complaining of slowly progressive gait disturbance. His initial symptoms were behavioral change and mental deterioration starting at age 16. One year later, unstable gait and speech disturbance appeared. On admission, neurological findings included slight dementia, visual loss, scanning speech, dysdiadochkinesis, pathological reflexes, spastic and ataxic gait. Brain CT scan showed symmetrical low density areas in the dentate nuclei and cerebellar white matter, atrophy of the brain stem and cerebellum, and dilatation of the fourth ventricle. These findings were also confirmed by MRI. One year after admission, atrophy of the frontal, temporal, parietal lobes was noted by CT scan and MRI. The cervical and thoracic cord was observed to be atrophic by MRI. Motor nerve conduction study showed decreased velocity, suggesting the presence of peripheral neuropathy. Fatty acids analysis of plasma sphingomyelin revealed marked increased in very long chain fatty acids, which was compatible with a diagnosis of adrenoleukodystrophy (ALD). However, the term "adrenoleukomyeloneuropathy (ALMN)" was considered more preferable, since the spinal cord and peripheral nerves were involved in this case. Prominent changes in the cerebellar white matter and dentate nuclei at early stage on CT and MRI were not described in the previous publications. Our paper, hence, may be the first one to report such findings and may contribute to early recognition of ALD or ALMN.
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PMID:[A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI]. 204 10

In adrenoleukodystrophy, demyelinization of the cerebral hemispheres is associated with Addison's disease. The condition is hereditary and transmitted as a sex-linked recessive trait. The diagnosis must be considered in male teenagers with deterioration of mental functions, motricity and vision and with a computed tomographic image of white matter hypodensity predominant in the posterior part of the cerebral hemispheres. An accumulation of very long chain fatty acids, and characteristic lamellar cytoplasmic inclusions are the biochemical and ultrastructural markers of the disease. Adrenomyeloneuropathy differs from adrenoleukodystrophy in that it begins during adulthood and produces neurological symptoms, notably progressive spastic paraparesis associated with peripheral neuropathy. Heterozygous women can be identified by measurements of very long chain fatty acids in plasma and fibroblast cultures; they sometimes develop spastic paraparesis. The prenatal diagnosis rests on the determination of very long chain fatty acids in amniotic cells.
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PMID:[Adrenoleukodystrophy and adrenomyeloneuropathy]. 294 90

Adrenomyeloneuropathy (AMN) was diagnosed in a 24 year old man. He had had acute periods of adrenal insufficiency since early infancy and had melanoderma, moderate mental deterioration, psychic disorders and, from 16 years of age, a spastic paraplegia. Confirmation diagnosis was obtained by the existence in the family of two definite cases (a brother and second cousin) and one probable case (a maternal uncle) of an adrenoleukodystrophy (ALD), by the demonstration of a peripheral neuropathy with characteristic lamellar inclusions in a sural nerve biopsy and by raised plasma very long chain fatty acids level. Multinodal study of evoked potentials showed anomalies due to changes in supraspinal central nervous system. Adrenoleukomyeloneuropathy or ALMN (the association within the same family of cases of AMN and ALD being possible as confirmed by the present case) is recessive and X - linked. It belongs to the peroxisomial diseases. No therapy has been proven effective on the neurological disease.
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PMID:[Adrenoleukomyeloneuropathy. A familial case]. 342 Mar 52

Four cases of adrenomyelopathy, the adult form of adrenoleukodystrophy, three of which were familial, were reported. The neurological disease consisted of progressive spasmodic paraplegia, sphincter disorders, peripheral neuropathy, occasional deep sensibility impairment and psychiatric disturbances in one case. Adrenal insufficiency was confirmed after the appearance of the neurological signs in two cases; in another case it had been diagnosed in childhood. Gonadal insufficiency was present in all cases and clinically apparent in two patients. Detailed genetic studies were carried out in two patients of the same family. Histocompatibility tests showed A2 and B15 antigens in three out of four cases. The diagnosis was confirmed in three cases by measurement of serum long chain fatty acid with increased C26 levels and C26/C22 ratios. Peripheral nerve biopsy in 1 patient showed characteristic inclusion bodies in the Schwann cells. The authors discuss the relationship between ALD and familial spasmodic paraplegia, the mode of genetic transmission of the disease and the diagnostic value of neuromuscular biopsy and measurement of serum long chain fatty acid levels.
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PMID:[Adrenomyeloneuropathy. 4 cases developing with the features of familial spasmodic paraplegia]. 651 27

Peroxisomal disorders are rare systemic maladies in which specific major organ systems are typically involved: most importantly the central nervous system (CNS), but also the peripheral nervous system, eyes, liver, adrenal, kidney and skeleton. Zellweger syndrome (ZS) is the most severe of the generalized types and exhibits major neocortical migration defects, less severe and non-inflammatory white matter lesions, and dysmorphic features. In adrenoleukodystrophy (ALD) the major lesion again is in the CNS, but consists of extensive dysmyelination/inflammatory demyelination without neuronal migration defects or dysmorphism. In adrenomyeloneuropathy long tract degeneration of spinal cord, peripheral neuropathy, and variable CNS dysmyelinative to inflammatory demyelinative lesions are the dominant nervous system lesions. Saturated very long chain fatty acids, either free in the cytoplasm of affected endocrine cells or as components of membrane lipids (e.g. gangliosides, glycerophospholipids, and proteolipid protein) in axons or myelin, may be central to the pathogenesis of these neuronal migration defects, dysmyelination/inflammatory demyelination and spinal tract degeneration. Cytokines, particularly tumor necrosis factor-alpha, and delayed cellular hypersensitivity appear to be major secondary pathogenic factors in ALD.
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PMID:The pathology of peroxisomal disorders with pathogenetic considerations. 766 61

Adrenal insufficiency has been associated with adrenoleukodystrophy and adrenomyeloneuropathy. In these diseases, plasma very long chain fatty acids are elevated. Peripheral neuropathy is frequently seen in adults with adrenomyeloneuropathy. We encountered two first cousins with adrenal insufficiency, who also developed peripheral neuropathy, achalasia, alacrima, and microcephaly. However, plasma very long chain fatty acids, pipecolic acid, phytanic acid, and cranial computed tomographic scan were normal. Muscle mitochondrial respiratory chain enzymes were also normal. This syndrome of adrenal insufficiency, achalasia, alacrima, microcephaly, and peripheral neuropathy is different from either adrenomyeloneuropathy or adrenoleukodystrophy.
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PMID:Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes. 800 62

Adult adrenoleukodystrophy is a X-linked peroxisomal disease associated with the accumulation of very long chain fatty acids (VLCFA) in tissues and body fluids. The diagnosis is established on the demonstration of elevated VLCFA in blood and cultured skin fibroblasts. Women are affected in nearly 15% of cases and neurological symptoms and/or signs develop in 53% of them. Identifying these women is important because of genetic counseling and a possible therapeutic approach. Ten cases of symptomatic heterozygous adult adrenoleukodystrophy are reported. Mean age at the time of diagnosis was 44.6 +/- 9.3 years. All patients presented with spastic paraparesis with inconstant and mild sensory or bladder disturbances. Cognitive impairment was present in 1 case. Cerebrospinal fluid was normal. Adrenal function in response to tetracosactide injection was abnormal in 1/7 cases. Electromyography detected a peripheral neuropathy in 1 case. Somatosensory evoked responses were abnormal in all cases, visual and auditory evoked responses in respectively 3/6 cases and 3/4 cases. Brain MRI detected non specific abnormalities in 3/7 cases; spinal cord MRI was normal in 3/3 cases. The familial history was helpful for the diagnosis in 3/10 cases. Examination of pedigrees detected 5 hemizygous and 1 asymptomatic heterozygous cases. All the patients were enrolled in a dietary study which adret with low VLCFA is currently under evaluation.
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PMID:[Symptomatic heterozygotic adrenoleukodystrophy in adults. 10 cases]. 800 41

We reported a 60-year-old man with late-onset adrenomyeloneuropathy (AMN). He had been well until 10 years before entry, when he noticed numbness in the legs with gait difficulty; symptoms worsened gradually with additional urinary disturbance. Transient improvement occurred after cervical and lumbar spinal operation under the diagnosis of spinal spondylosis, while his spastic gait got worse. Neurological examination on admission disclosed bilateral horizontal nystagmus, ataxic and spastic gait, increased patellar tendon reflexes, Chaddock sign, and impaired deep sense in the lower limbs with positive Romberg sign. Abnormal laboratory data included hypofunction of the adrenal cortex and elevated saturated very long chain fatty acids (VLCFAs). Serum cholestanol level was normal and anti-HTLV-1 antibody was negative. T2-weighted MRI showed a high signal intensity lesion in the occipital white matter along the optic radiation. Electrophysiological tests suggested a brainstem lesion on auditory brainstem response, thoracic or lumbar lesion on somatosensory evoked potential, and peripheral neuropathy on nerve conduction study. In the present case, it should be emphasized that the determination of serum VLCFAs unveiled the diagnosis of AMN in old patients with spinal spondylosis or without apparent clinical symptoms of adrenocortical insufficiency.
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PMID:[Late-onset adrenomyeloneuropathy perplexed with spondylosis. A case report]. 875 94

Adrenomyeloneuropathy (AMN) is a clinical subtype of X-linked adrenoleukodystrophy (ALD). In ALD, the accumulation of very long chain fatty acids (VLCFA) in the nervous system, adrenal cortex, and testes due to impaired degradation of VLCFA is thought to be pathogenic. Demonstration of abnormally high levels of saturated VLCFA is diagnostic of ALD. The symptoms of AMN include spastic paraparesis, impaired vibration sense in the distal legs, urinary disturbances, and mild peripheral neuropathy. About further involvement of the autonomic nervous system, no data are available. We report an AMN patient with clinically suspected and electrophysiologically verified autonomic neuropathy, supporting the hypothesis that neuropathy in AMN is at least partially caused by primary axonal degeneration.
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PMID:Autonomic neuropathy in a patient with adrenomyeloneuropathy. 943 62


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