The Leukodystrophies

Moser, Hugo W.; Naidu, Sakkubai

doi:10.1016/b978-0-323-03354-1.50084-5

Cited by 2 publications

(3 citation statements)

References 169 publications

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“…This combination of chronic DWI and ADC findings is described in metachromatic leucodystrophy 9. However, metachromatic leucodystropy in adults is dissimilar, with preferential frontal lobe and corpus callosal involvement10 on brain imaging although the two may be indistinct on imaging alone. Similar findings have been ascribed to restricted diffusion of extracellular water intimately associated with degraded myelin sheaths termed ‘intramyelinic oedema’, with an element of oligodendrocyte cytotoxic changes 11–15.…”

Section: Discussionmentioning

confidence: 91%

Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study

Mateen

Keegan

Krecke

et al. 2010

Journal of Neurology, Neurosurgery & Psychiatry

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Leucodystrophy with neuroaxonal spheroids (LNS) is rare. There have been fewer than 10 sporadic cases reported, all occurring in the fourth to sixth decades of life. Previously unreported diffusion weighted imaging (DWI) changes on brain imaging in LNS are described as well as the first neurocognitive profile of this disorder in a 24-year-old woman. Neuropsychological testing demonstrated a global cognitive decline, with deficits most representative of a frontal-subcortical dementia. Bright DWI and corresponding dark apparent diffusion coefficient changes were initially mistaken for acute cerebral infarction but then persisted for 19 weeks. Biopsy of a bright DWI lesion showed no evidence of vascular disease and confirmed this rare diagnosis. Given the number of patients with the diagnosis of cerebrovascular disease, supported by DWI findings, we propose other milder cases of LNS may be overlooked.

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Section: Discussionmentioning

confidence: 91%

Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study

Mateen

Keegan

Krecke

et al. 2010

Journal of Neurology, Neurosurgery & Psychiatry

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“…Pathogenic versions of ALDH3A2 trigger diseases such as hyperkeratosis, ichthyosis, spasticity, intellectual disability, and a variety of less prevalent clinical characteristics. The incidence of SLS is 0.4 per 100 000 population, and 200 instances globally have been recorded so far . There is also evidence of deficient leukotriene B4 (LTB4) degradation in patients with SLS due to FALDH deficiency resulting in an elevated urinary level of effective LTB4 metabolites, which explains the elevated incidence of premature birth in SLS (Figure ).…”

Section: Introductionmentioning

confidence: 99%

“…The incidence of SLS is 0.4 per 100 000 population, and 200 instances globally have been recorded so far. 7 There is also evidence of deficient leukotriene B4 (LTB4) degradation in patients with SLS due to FALDH deficiency resulting in an elevated urinary level of effective LTB4 metabolites, which explains the elevated incidence of premature birth in SLS 8 (Figure 1).…”

Section: Introductionmentioning

confidence: 99%

Sjogren‐Larsson syndrome associated hypermelanosis

Hou

Zhu

et al. 2019

J of Cosmetic Dermatology

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Background/Objectives Sjogren – Larsson syndrome (SLS) is a rare autosomal recessive disease of the mutation ALDH3A2 that identifies a part of fatty acids for fatty aldehyde dehydrogenase: NAD‐oxidoreductase enzyme complex. This study aimed to access variant ALDH3A2 gene coded for FALDH and products regulating pathogenic melanogenesis owing to increased oxidative stress and reactive oxygen species resulting in DNA harm in SLS. By turning them into fatty acids, FALDH avoids the accumulation of toxic fatty aldehydes. The mutation results in the accumulation of aldehyde‐modified lipids or fatty alcohols that may interfere with skin and brain function. Methods In Nov 2018, we performed a literature search in PubMed for clinical studies, clinical trials, case reports, controlled trials, randomized controlled trials, and systemic reviews. The search terms we used were “SJOGREN‐LARSSON SYNDROME” AND “HYPERMELANNOSIS” OR “FALDH” (from 1985). The search resulted in 1,289 articles, out of these 95 articles met our inclusion exclusion criteria. Our inclusion criteria included relevant original articles relevant, critical systemic reviews, and crucial referenced articles, ex‐clusion criteria included duplicates and articles not published in English language. Results Toxicity of long‐chain aldehydes to FALDH‐deficient cells owing to accumulation under the profound epidermis layer improves oxidative stress in the cell resulting in keratinocyte hyperproliferation. Conclusion While it continues to be determined whether accumulated fatty alcohol and fatty aldehydes obtained from ether glycerolipids and sphingolipids improve the susceptibility of melanocytes and their element accountable for skin hyperpigmentation to biological colour.

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The Leukodystrophies

Cited by 2 publications

References 169 publications

Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study

Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study

Sjogren‐Larsson syndrome associated hypermelanosis

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