Parkinsonism in cerebrotendinous xanthomatosis.

Abstract

This report describes a case of cerebrotendinous xanthomatosis (CTX) accompanied by clinical manifestations of parkinsonism, including oily and masked face, marked akinesia, muscle rigidity and resting hand tremor. Magnetic resonance imaging (MRI) of the brain showed high intensity areas on T2 weighted imaging, and slightly low intensity areas on Tl weighted imaging in the right globus pallidus and the left putamen. Cerebral cortical atrophy with slight ventricular dilatation and cerebellar atrophy were present as well. This is a case report of CTXwhich manifested parkinsonism. Parkinsonism may not be a coincidental manifestation in CTX,but rather represent a symptomof the same underlying diathesis.

Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography–mass spectrometry (GC–MS) with selective ion monitoring (SIM)

“…The results are compatible with those reported in other published methods such as GC-FID [10,11] and HPLC [7][8][9]. Furthermore, this method has resulted to be highly specific, sensitive, and reproducible, for the simultaneous measurement of cholestanol, desmosterol, lathosterol, campesterol and ␤-sitosterol in human plasma and is able to ensure a higher throughput.…”

“…Several methods for sterol analysis from various biological matrixes have been described, including high performance liquid chromatography (HPLC) [7][8][9], gas liquid chromatography (GLC) [10][11][12], gas chromatography coupled to mass spectrometry (GC-MS) [13][14][15][16], and liquid chromatography coupled to mass spectrometry (LC-MS) [17,18].…”

Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings

“…Of the neurologic presentations, cerebellar ataxia, neurobehavioral disorders, and spasticity of the limbs are common, whereas extrapyramidal symptoms are uncommonly mentioned 1–6. In particular, parkinsonism is a rare feature and there are very few reports in literature 7–12…”

Nueva mutación para xantomatosis cerebrotendinosa causa demencia temprana familiar en Colombia

“…Parkinsonism was observed in three of the four affected individuals (range of onset: 40-55, average: 45) with poor response to levodopa. Parkinsonism is an uncommon symptom, but cerebrotendinous xanthomatosis patients associated with this extrapyramidal sign have been reported to date (7,8,22,(25)(26)(27)(28)(29). Pyramidal symptoms were observed in two individuals (case 2 and 3).…”