Multiple Sclerosis-Like Syndrome in a Woman Heterozygous for Adrenoleukodystrophy

Stöckler, Sylvia; Millner, M; Molzer, Brunhilde; Ebner, Franz; Körner, E; Hw, Moser

doi:10.1159/000116978

Cited by 17 publications

(10 citation statements)

References 5 publications

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“…Widespread inflammatory demyelination, including perivascular lymphocytic cuffing reminiscent of MS pathology, and Gd-enhancing white matter lesions are characteristic [59]. Milder forms in female carriers can be clinically very similar to MS [60,61]. While the author recognizes the fundamental differences between adrenoleukodystrophy and MS, this leukodystrophy and its variants are particularly instructive on a number of levels.…”

Section: Reconstructing Ms: a Thought Experimentsmentioning

confidence: 99%

Pathoetiology of multiple sclerosis: are we barking up the wrong tree?

Stys

2013

F1000Prime Rep

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Despite a century of intensive investigation, the underlying cause of multiple sclerosis has eluded us. It is clear that there exists a prominent progressive degenerative phenotype together with an important autoimmune inflammatory component, and careful histopathological examination always shows, to a greater or lesser degree, concomitant degeneration/demyelination and adaptive T cell-dependent immune responses. Given this picture, it is difficult, if not impossible, to definitively say whether degeneration or autoimmunity is the initiator of the disease. In this review, I put forward the evidence for and against both models and speculate that, in contrast to the accepted view, it is equally likely that multiple sclerosis may be a degenerative disease that secondarily elicits an autoimmune response, and suggest how this might influence therapeutic approaches.

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Section: Reconstructing Ms: a Thought Experimentsmentioning

confidence: 99%

Pathoetiology of multiple sclerosis: are we barking up the wrong tree?

Stys

2013

F1000Prime Rep

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“…50 60 61 In The Netherlands, at least one female carrier underwent a cervical laminectomy because of suspected stenosis of the cervical spinal canal, whereas X-ALD remained unnoticed.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

Geel

Assies

Wanders

et al. 1997

Journal of Neurology, Neurosurgery & Psychiatry

136

100

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X linked adrenoleukodystrophy (X-ALD)is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insuYciency. The lowest estimated birth incidence is one per 100 000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy. The X-ALD gene has been identified, but thus far no relation between genotype and phenotype has been found. Diagnosis is relatively easy and can be confirmed reliably, and prenatal testing is possible in aVected families. Several therapeutic options, some with promising perspectives, are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD. In this review, the clinical presentation, the relative frequencies of the diVerent phenotypes, and the diagnostic and therapeutic options are presented.

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“…However, it is now recognised that female carriers of the mutation also manifest with symptoms (O'Neill et al 1984;Jangouk et al 2012;Engelen et al 2014). Females may develop a range of neurological deficits including hyperreflexia, impaired vibration sense and also spastic paraparesis, deficits reported also in our cohort, and may erroneously be diagnosed initially as having some other neurological condition such as multiple sclerosis before being found to be carrying the ABCD1 gene mutation (Dooley and Wright 1985;Stockler et al 1993;Krenn et al 2001;Di Filippo et al 2011).…”

Section: Discussionmentioning

confidence: 70%

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

et al. 2015

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Background: X-linked adrenoleukodystrophy (X-ALD) is a disorder caused by mutations in the ABCD1 gene. The commonest phenotype of X-ALD is adrenomyeloneuropathy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers.Methods: In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertiary care service were approached about bladder and bowel complaints and completed the Urinary Symptom Profile (USP), Qualiveen Short Form (SF-Qualiveen), International Prostate Symptom Score (IPSS) and Neurogenic Bowel Dysfunction (NBD) questionnaires. Neurological disability was assessed using the Expanded Disability Status Scale (EDSS).Results: Forty-eight patients participated, 19 males (mean EDSS score (n ¼ 16) 5.0 (95% CI AE 1.03)) and 29 females (mean EDSS score (n ¼ 25) 3.2 (95% CI AE 0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, n ¼ 19) and females (86.2%, n ¼ 25). There was no significant gender difference in severity of OAB symptoms (P ¼ 0.35) and impact on quality of life (P ¼ 0.13). Furthermore, there was no significant difference in OAB severity when symptoms were compared between female carriers and a cohort of women (n ¼ 17) with spinal cord damage due to multiple sclerosis (P ¼ 0.27). Twentyone percent (n ¼ 4) of males and 10% (n ¼ 3) of females had moderate to severe bowel dysfunction.Conclusions: Bladder and bowel complaints are common in both men with AMN and female carriers. They have a significant impact on the quality of life yet are underreported and under-treated. Though having an X-linked pattern of inheritance, female carriers may experience overactive bladder symptoms which are as severe as in male patients and are likely to be neurological in origin.

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Multiple Sclerosis-Like Syndrome in a Woman Heterozygous for Adrenoleukodystrophy

Cited by 17 publications

References 5 publications

Pathoetiology of multiple sclerosis: are we barking up the wrong tree?

Pathoetiology of multiple sclerosis: are we barking up the wrong tree?

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

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