Heredopathia Atactica Polyneuritiformis (Refsum's Disease) Treated by Diet and Plasma-Exchange

Gibberd, F. B.; Page, N. G. R.; Billimoria, J. D.; Retsas, Spyros

doi:10.1016/s0140-6736(79)91005-5

Cited by 107 publications

(54 citation statements)

References 3 publications

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“…Our study confirms results of former au thors [2][3][4][5] that plasma exchange is able to decrease serum phytanic acid level and brings an immediate improvement of the clinical state. This improvement could be maintained by a reasonable number of plas maphereses even though the effect of dietary regimen was not satisfactory.…”

Section: Discussionsupporting

confidence: 92%

“…To our knowledge, 5 cases successfully treated by plasma exchanges have so far been reported [2][3][4][5]. The most relevant informa tion is presented in table I.…”

Section: Discussionmentioning

confidence: 99%

“…However, there is a trend for large exchanges to be badly tolerated. Gibberd et al [4], who planned to exchange 5 liters in one session, kept to a level of 2 liters because of cardiac disturbances. We exchanged up to 3.6 liters, but the patient tended to feel very weak when exchanges ex ceeding 3 liters and intervals shorter than 3 days between plasmaphereses were used.…”

Section: Discussionmentioning

confidence: 99%

“…Several authors have shown the imme diate beneficial effect of plasmapheresis [2][3][4][5] and serial plasma exchanges have allowed clinical improvement to be maintained. Our awareness of the therapeutic success achieved by former authors prompted us to use plas mapheresis in addition to a moderate low phytanic diet in the present case.…”

Section: Introductionmentioning

confidence: 99%

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Refsum’s Disease: Management by Diet and Plasmapheresis

Hungerbühler¹,

Meier

Rousselle³

et al. 1985

Eur Neurol

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A case of Refsum’s disease treated by serial plasma exchanges together with a moderate low phytanate diet is reported. Serial plasma exchanges determined a rapid significant clinical improvement (neuropathy and cerebellar ataxia) that allowed immediate return to full-time employment. The initial improvement could be maintained by intermittent serial plasmapheresis despite partial failure of the initially introduced low phytanate diet bringing 20 mg phytanic acid daily. A new dietary regimen bringing 10 mg phytanic acid was later introduced that was well tolerated. No liquid formula was used. The clinical improvement was clearly correlated to a fall in serum phytanic acid from 45.3 to 16.2 mg/100 ml.

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Section: Discussionsupporting

confidence: 92%

“…To our knowledge, 5 cases successfully treated by plasma exchanges have so far been reported [2][3][4][5]. The most relevant informa tion is presented in table I.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Refsum’s Disease: Management by Diet and Plasmapheresis

Hungerbühler¹,

Meier

Rousselle³

et al. 1985

Eur Neurol

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“…Phytanic acid is derived from dietary sources only, specifically from the chlorophyll component phytol. When phytanic acid levels are kept low via dietary reduction, a halt in the progression of the symptoms has been reported (4)(5)(6)(7).…”

mentioning

confidence: 99%

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Ferdinandusse

Zomer

Komen

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

100

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Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PHYH), the first enzyme of the peroxisomal ␣-oxidation system, resulting in the accumulation of the branched-chain fatty acid phytanic acid. The main clinical symptoms are polyneuropathy, cerebellar ataxia, and retinitis pigmentosa. To study the pathogenesis of Refsum disease, we generated and characterized a Phyh knockout mouse. We studied the pathological effects of phytanic acid accumulation in Phyh ؊/؊ mice fed a diet supplemented with phytol, the precursor of phytanic acid. Phytanic acid accumulation caused a reduction in body weight, hepatic steatosis, and testicular atrophy with loss of spermatogonia. Phenotype assessment using the SHIRPA protocol and subsequent automated gait analysis using the CatWalk system revealed unsteady gait with strongly reduced paw print area for both fore-and hindpaws and reduced base of support for the hindpaws. Histochemical analyses in the CNS showed astrocytosis and up-regulation of calcium-binding proteins. In addition, a loss of Purkinje cells in the cerebellum was observed. No demyelination was present in the CNS. Motor nerve conduction velocity measurements revealed a peripheral neuropathy. Our results show that, in the mouse, high phytanic acid levels cause a peripheral neuropathy and ataxia with loss of Purkinje cells. These findings provide important insights in the pathophysiology of Refsum disease.fatty acid oxidation ͉ metabolic disorder ͉ peroxisomes

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Complications of Plasma Exchange in Neurological Patients

Rodnitzky¹,

Goeken²

1982

Archives of Neurology

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Heredopathia Atactica Polyneuritiformis (Refsum's Disease) Treated by Diet and Plasma-Exchange

Cited by 107 publications

References 3 publications

Refsum’s Disease: Management by Diet and Plasmapheresis

Refsum’s Disease: Management by Diet and Plasmapheresis

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Complications of Plasma Exchange in Neurological Patients

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