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Human T-cell lymphotropic virus (HTLV)-1-associated myelopathy (HAM) is well described. Clinical features are predominantly consistent with cord pathology, though imaging and autopsy studies also demonstrate brain inflammation. In general, this is subclinical; however, six cases have previously been reported of encephalopathy in HTLV-1-infected patients, without alternative identified aetiology. We describe three further cases of encephalitis in the UK HAM cohort (n = 142), whereas the annual incidence of acute encephalitis in the general population is 0.07-12.6 per 100,000. Clinical features included reduced consciousness, fever/hypothermia, headaches, seizures, and focal neurology. Investigation showed: raised CSF protein; pleocytosis; raised CSF:peripheral blood mononuclear cell HTLV-1 proviral load ratio; and MRI either normal or showing white matter changes in brain and cord. Four of the six previous case reports of encephalopathy in HTLV-infected patients also had HAM. Histopathology, reported in three, showed perivascular predominantly CD8+ lymphocytic infiltrates in the brain. One had cerebral demyelination, and all had cord demyelination. We have reviewed the existing six cases in the literature, together with our three new cases. In all seven with HAM, the spastic paraparesis deteriorated sub-acutely preceding encephalitis. Eight of the nine were female, and four of the seven treated with steroids improved. We propose that HTLV-associated encephalopathy may be part of the spectrum of HTLV-1-induced central nervous system disease. [ABSTRACT FROM AUTHOR]

Adrenoleukodystrophy (ALD) and its adult variant adrenomyeloneuropathy (AMN) are X-linked diseases associated with a deficiency in the peroxisomal degradation of saturated very long chain fatty acids (VLCFA) resulting in an accumulation of VLCFA in the central and peripheral myelin, the adrenal cortex and the testis. Adrenal insufficiency with clinical hypocortisolism occurs in approximately two thirds of the patients with AMN.We studied the circulating adrenal hormones17α-hydroxyprogesterone (17α-OHP), androstenedione and dehydroepiandrosterone sulphate (DHEAS) in 63 male AMN patients (age 17–65 years) and the DHEAS serum levels in 95 healthy male controls (age 30–65 years). 34 of the patients presented with the phenotype of only spinal cord and peripheral nerve disability without hypocortisolism, 29 of the patients presented with the phenotype of either additional hypocortisolism or Addison’s syndrome only. Normal 17α-OHP concentrations were found in all patients with no significant difference between patients without and with hypocortisolism (6.07±0.61 nmol/l and 4.76±0.37 nmol/l). Androstenedione concentration was significantly (p<0.01) lower in patients with hypocortisolism (2.99±0.65 pmol/l versus 5.71±0.68 pmol/l). As serum levels of DHEAS are agedependent we divided the two groups into two subgroups each (subgroup one: age 17–40 years, subgroup two: age 41–65 years). The DHEAS concentration of patients without and with hypocortisolism was significantly (p<0.01) lower in both subgroups (1. 4.35±0.84 µmol/l, n=15, 2. 15±0.28 µmol/l, n=19; 1. 1.90±0.57 µmol/, n=21, 2. 0.96±0.29 µmol/l, n=8) compared to controls (1. 9.0±0.96 µmol/l; 2. 5.21±0.25 µmol/l). In conclusion, androstenedione and DHEAS serum concentrations are subnormal in all AMN patients and may therefore serve as sensitive markers of the adrenal function in adrenomyeloneuropathy. [ABSTRACT FROM AUTHOR]

A family with adrenomyeloneuropathy (AMN) is reported, whose female carriers showed severe neurological and biochemical abnormalities. Cytoplasmic lamellar inclusions were found in endoneurial cells of the biopsied sural nerve of a male patient. In spite of the peripheral nervous system involvement in patients with AMN, there have been few reports of these inclusions in the peripheral nerves of such cases. [ABSTRACT FROM AUTHOR]

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Adrenomyeloneuropathy (AMN) is reported in two kindreds. In the first family, four male patients were affected: two adults with the full clinical picture but with a different chronology of the main symptoms, a third adult with central nervous system involvement and a child who died early with adrenal insufficiency. The second family included two male patients with AMN, one adult with raised ACTH levels and his nephew with normal adrenal function. Two other young males died with adrenoleukodystrophy (ALD), one being subjected to a postmortem study. Clinical, endocrinological, neurophysiological and pathological studies were performed. The following conclusions can be made: (1) AMN and ALD are closely related entities; (2) there exists a considerable intrafamilial variability of the clinical picture; (3) AMN is to be included in the differential diagnosis of myelopathies and, conversely, signs of central nervous system damage must be sought in male patients with adrenal insufficiency; (4) electron microscopy of nerve twigs brings supportive diagnostic evidence pending the more widespread determination of the C26/C22 fatty acids ratios in cultured fibroblasts or plasma. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Neurology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A family in which three members presented with cerebral adrenoleucodystrophy in adulthood is described. The implications on our understanding for the mechanisms controlling the phenotypic expression of this genetic disorder are discussed. [ABSTRACT FROM AUTHOR]

Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are allelic X-chromosomal disorders of peroxisomal lipid metabolism due to mutations of the ABCD1-gene, leading, respectively, to leukoencephalopathy or myeloneuropathy in male patients. We report a family with two symptomatic carriers in subsequent generations who both suffer from symptoms of an AMN. In both patients, molecular genetic testing revealed a heterozygous c.1552C>T-transition (p.Arg518Trp) in exon 6 of ABCD1. Our observations underline the importance of identifying such symptomatic ALD carriers. [ABSTRACT FROM AUTHOR]

Presents a letter to the editor describing a case of adrenomyelo-neuropathy with unusual lesion pattern in magnetic resonance imaging.