Refsum's disease in an Arabian family

Fertl, E; Földy, D; Vass, Karl; Auff, Eduard; Vass, C. C. N.; Molzer, Brunhilde; Bernheimer, H.

doi:10.1136/jnnp.70.4.564

Cited by 9 publications

(7 citation statements)

References 3 publications

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“…Similarly, the pathology seen in phytol-fed mouse models is multifactorial. Even in wild type mice, phytol administration affects liver (PPARα activation, hepatocellular hypertrophy and hyperplasia), more outspoken in females than in males [127,128]. The gender difference is related to the low hepatic expression of SCPx in females, to such an extent that it becomes a limiting factor in the degradation of pristanic acid.…”

Section: Impaired Pristanic Acid Degradationmentioning

confidence: 93%

Hepatic dysfunction in peroxisomal disorders

Baes

Veldhoven

2016

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

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The peroxisomal compartment in hepatocytes hosts several essential metabolic conversions. These are defective in peroxisomal disorders that are either caused by failure to import the enzymes in the organelle or by mutations in the enzymes or in transporters needed to transfer the substrates across the peroxisomal membrane. Hepatic pathology is one of the cardinal features in disorders of peroxisome biogenesis and peroxisomal β-oxidation although it only rarely determines the clinical fate. In mouse models of these diseases liver pathologies also occur, although these are not always concordant with the human phenotype which might be due to differences in diet, expression of enzymes and backup mechanisms. Besides the morphological changes, we overview the impact of peroxisome malfunction on other cellular compartments including mitochondria and the ER. We further focus on the metabolic pathways that are affected such as bile acid formation, and dicarboxylic acid and branched chain fatty acid degradation. It appears that the association between deregulated metabolites and pathological events remains unclear.

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Section: Impaired Pristanic Acid Degradationmentioning

confidence: 93%

Hepatic dysfunction in peroxisomal disorders

Baes

Veldhoven

2016

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

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“…Surprisingly, only few post‐mortem histopathological investigations on Refsum patients were performed and findings in the cerebellum and brainstem are scarce, revealing atrophy of the cerebellar vermis and patchy cell degeneration in the dentate and inferior olivary nuclei . It should be noted that cerebellar pathology may not be the sole origin of ataxia as gait disturbances without cerebellar pathological changes have been reported . The loss of proprioception caused by the demyelinating neuropathy will cause a sensory ataxia on top of the cerebellar ataxia .…”

Section: Defects In α‐Oxidation Of Phytanic Acidmentioning

confidence: 99%

Peroxisomal Disorders: A Review on Cerebellar Pathologies

Munter

Verheijden

Régal³

et al. 2015

Brain Pathology

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Peroxisomes are organelles with diverse metabolic tasks including essential roles in lipid metabolism. They are of utmost importance for the normal functioning of the nervous system as most peroxisomal disorders are accompanied with neurological symptoms. Remarkably, the cerebellum exquisitely depends on intact peroxisomal function both during development and adulthood. In this review, we cover all aspects of cerebellar pathology that were reported in peroxisome biogenesis disorders and in diseases caused by dysfunction of the peroxisomal α-oxidation, β-oxidation or ether lipid synthesis pathways. We also discuss the phenotypes of mouse models in which cerebellar pathologies were recapitulated and search for connections with the metabolic abnormalities. It becomes increasingly clear that besides the most severe forms of peroxisome dysfunction that are associated with developmental cerebellar defects, milder impairments can give rise to ataxia later in life.

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“…Refsumʼs disease (OMIM 266500) is a very rare (about 60 cases have been reported worldwide) autosomal recessive inherited peroxisomal error of lipid metabolism with impaired alpha-oxidation of branched fatty acids that leads to an accumulation of phytanic acid in tissues and plasma [1]. Various mutations of genes like PEX7 (encodes PTS2 receptor) or PHYH (encodes phytanoyl-CoA hydroxylase) are associated with Refsumʼs disease.…”

Section: Introductionmentioning

confidence: 99%