Refsum's disease: a peroxisomal disorder affecting phytanic acid α‐oxidation

Wierzbicki, Anthony S.; Lloyd, Matthew D.; Schofield, Christopher J.; Feher, Michael; Gibberd, F. B.

doi:10.1046/j.0022-3042.2002.00766.x

Cited by 176 publications

(180 citation statements)

References 70 publications

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“…After 10-15 years, deafness, cerebellar ataxia, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur. About one third of the patients present with shortened metacarpal and 4th metatarsal bones (Wierzbicki et al 2000(Wierzbicki et al , 2002R€ uether et al 2010).…”

Section: Discussionmentioning

confidence: 99%

Refsum Disease Presenting with a Late-Onset Leukodystrophy

et al. 2014

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Adult Refsum disease is an autosomal recessive peroxisomal disorder characterized by phytanic acid storage. Clinical symptoms usually begin in late childhood before the age of 20. Typical clinical presentation includes nyctalopia caused by retinitis pigmentosa, and anosmia. After 10-15 years, deafness, cerebellar ataxia, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement. Brain MRI showed a leukoencephalopathy involving the periventricular white matter, subcortical area, and the brainstem with relative sparing of juxtacortical U fibers. This was associated with severe cortical and subcortical atrophy with ventricle dilatation. MR spectroscopy showed a marked increase in the choline/NAA ratio. Elevated plasma phytanic acid level was found, whereas plasma levels of pristanic and very long chain fatty acids were normal. The patient is homozygous for a previously undescribed PHYH frameshift mutation. Whether the very unusual phenotype is related to this peculiar mutation remains unclear.This 72-year-old woman with a past history of left-eye congenital amaurosis, insulino-requerant diabetes, and elevated blood pressure came to medical attention because of progressive dementia and walking difficulties. She had no noticeable neurological problem until the age of 69, when she experienced balance difficulties and memory problems. A year later, after a fall, a C2 vertebra fracture was discovered. Within the next months, apragmatism (inability to wash or dress) was noticed along with a severe memory loss (she forgot the number and names of her children), nycthemeral rhythm inversion, and urinary incontinence. Neuropsychological tests showed severe frontal syndrome, dementia with spatiotemporal disorientation, and memory loss. Clinical examination disclosed gait apraxia reminiscent of frontal lobe dysfunction with no clear cerebellar ataxia. A brain magnetic resonance (MR) imaging showed a leukoencephalopathy involving the periventricular white matter, subcortical area, and the brainstem with relative sparing of juxtacortical U fibers (Fig. 1a, b). This was associated with severe cortical and subcortical atrophy with ventricle dilatation. MR spectroscopy showed a marked increase in the choline/NAA ratio (Fig. 1c).Electromyography showed no polyneuropathy but only bilateral carpal tunnel syndrome. Electroretinogram was normal in the right eye (not evaluable on the left). Cardiac

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Section: Discussionmentioning

confidence: 99%

Refsum Disease Presenting with a Late-Onset Leukodystrophy

et al. 2014

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“…Elevation of serum phytanic acid (>200 mM/L; reference value <30 mM/L) is very suggestive, but not specific of RD 31,33 . Phytanic acid is a branched long chain fatty acid present on dairy products and red meat 33 .…”

Section: Refsum Diseasementioning

confidence: 99%

“…Other common clinical manifestations are anosmia, cochlear deafness, ichthyosis, bone dysplasia and cardiac abnormalities [31][32][33] . Psychiatric disorders are uncommon 31,33 . If not adequately treated, RD can cause premature cardiac death 31,32 .…”

Section: Refsum Diseasementioning

confidence: 99%

“…Its onset usually occurs before 20 years of age, with night blindness secondary to retinopathy, followed by progressive constriction of visual field and optic atrophy, cataracts, vitreous opacities and nystagmus 32,33 . Other common clinical manifestations are anosmia, cochlear deafness, ichthyosis, bone dysplasia and cardiac abnormalities [31][32][33] . Psychiatric disorders are uncommon 31,33 .…”

Section: Refsum Diseasementioning

confidence: 99%

“…Phytanic acid is a branched long chain fatty acid present on dairy products and red meat 33 . It is a by-product of chlorophyll catabolism and is not endogenously synthesized [31][32][33] .…”

Section: Refsum Diseasementioning

confidence: 99%

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Autosomal recessive ataxias: 20 types, and counting

Embiruçu

Martyn

Schlesinger

et al. 2009

Arq. Neuro-Psiquiatr.

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-More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high. The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these disorders and to present an algorithm to guide the diagnosis.KEY WORDS: autosomal recessive ataxias, cerebellar ataxia, cerebellum, Friedreich ataxia.Ataxias autossômicas recessivas: 20 tipos e muito mais resumo -Mais de 140 anos após a primeira descrição da ataxia de Friedreich, as ataxias autossômicas recessivas se transformaram em um dos mais complexos campos da Neurogenética. Atualmente, este grupo de doenças é composto por mais de 20 entidades clínicas e possui um número ainda maior de genes associados. Algumas doenças são muito raras, tendo sido observadas apenas em populações isoladas, enquanto que outras são encontradas no mundo todo. Um número expressivo de ataxias é tratável, e a responsabilidade em se fazer um diagnóstico correto é alta. A finalidade desta revisão é a de atualizar o neurologista a respeito dos principais aspectos clínicos e fisiopatológicos destas doenças e de apresentar um algoritmo para auxiliar a sua investigação e o seu diagnóstico.

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Peroxisomal Disorders

and¹,

MacDonald²

2007

Clinical Paediatric Dietetics

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Refsum's disease: a peroxisomal disorder affecting phytanic acid α‐oxidation

Cited by 176 publications

References 70 publications

Refsum Disease Presenting with a Late-Onset Leukodystrophy

Refsum Disease Presenting with a Late-Onset Leukodystrophy

Autosomal recessive ataxias: 20 types, and counting

Peroxisomal Disorders

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