Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations

Chang, Chiung‐Chih; Lui, Chun‐Chung; Wang, Jiun‐Jie; Huang, Shu-Hua; Lu, Cheng-Hsien; Chen, Ching; Chen, Chih‐Feng; Tu, Manghui; Huang, Chi‐Wei; Chang, Wen-Neng

doi:10.1186/1471-2377-10-59

Cited by 29 publications

(24 citation statements)

References 28 publications

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“…20 In total, we found that 54 patients of the 425 CTX cases published in the medical literature in the period 1937–2012 have had psychiatric manifestations ranging from personality changes and behavioral disorder to frank affective and psychotic disorders 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43 (Tables 2 and 3). This amounts to an incidence of 12.7% for psychiatric manifestations in the CTX population.…”

Section: Resultsmentioning

confidence: 99%

“…4, 6, 7, 8, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79, 80 Electrophysiological, neuropsychological and neuroradiological evaluation results support the notion that timely and adequate specific treatment may partially reverse neural tissue damage in the CNS and peripheral nervous system. 41, 72, 73, 74, 75, 76, 77, 78, 79, 80 …”

Section: Discussionmentioning

confidence: 99%

“…53, 54, 56, 57 However, alterations of the composition of the lipid bilayer of neuronal plasma membranes may also have repercussions in neuronal integrity and/or function at the level of soma, synapse or circuitry. 41, 44, 45, 53, 79 Moreover, intracerebral lipid deposition in the form of xanthomas and local inflammatory reaction take their toll on myelinated axonal tracts, central grey matter formations and neuronal cell bodies. 66, 67, 68, 69 Thus, both demyelination and inevitable neuronal loss ultimately lead to the neurologic and complex psychiatric manifestations of CTX.…”

Section: Discussionmentioning

confidence: 99%

“…This hypothesis is supported by anatomopathological findings, and both conventional and advanced neuroimaging. 3, 4, 13, 28, 41, 44, 45, 46, 53, 79, 80, 81 Despite the definite organic etiopathogenesis of the neurobehavioral manifestations of CTX, depressive and anxiety symptoms, which constitute the second most common psychiatric manifestation in CTX, may sometimes be attributable in part to the physical and psychosocial impact of a chronic neurologic disease and cognitive decline on role functioning and quality of life, especially in younger patients without dementia. 82 …”

Section: Discussionmentioning

confidence: 99%

“…109, 112 Systematic advanced neuroimaging studies with positron emission tomography, single photon emission computerized tomography, magnetic resonance spectroscopy and diffusion tensor imaging are needed to clarify the importance of white matter functional, biochemical and microstructural abnormalities in the cognitive and neurobehavioral syndromes associated with CTX at various stages in the disease course, correlate these findings to neuropsychological assessment parameters and scores, as well as monitor the effects of disease-modifying treatment. 41, 79, 80, 113, 114 …”

Section: Discussionmentioning

confidence: 99%

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Psychiatric manifestations in cerebrotendinous xanthomatosis

Fraidakis

2013

Transl Psychiatry

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Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must be started as early as possible to prevent permanent disability. Psychiatric manifestations are rare and non-specific, and often lead to significant diagnostic and treatment delay. Therefore, better recognition of the gamut of psychiatric manifestations in CTX can diminish the risk of misdiagnosis and irreversible neurological deterioration. We hereby describe the psychiatric features in CTX. A complete review of all published cases of CTX in the medical literature was undertaken and the case reports with psychiatric presentation were collected and analyzed. We also describe the psychiatric features in relation to the neurological semeiology in six patients with CTX diagnosed at the La Salpêtrière Hospital. We conclude that psychiatric manifestations in CTX follow a bimodal/bitemporal pattern, appearing early in the disease course in the form of a behavioral/personality disorder associated with learning difficulties or mental retardation, or manifesting in advanced disease in the setting of dementia as rich neuropsychiatric syndromes, such as frontal, orbitofrontal or frontotemporal syndromes of cortico-subcortical dementia encompassing behavioral/personality disturbance, affective/mood disorders or psychotic disorders. Behavioral/personality disturbance in childhood or adolescence, especially when accompanied by learning difficulties, should therefore lead to further investigation to exclude CTX, as early diagnosis and treatment is critical for prognosis.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Psychiatric manifestations in cerebrotendinous xanthomatosis

Fraidakis

2013

Transl Psychiatry

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Neuroimaging of lipid storage disorders

Rieger

Auerbach

Robinson

et al. 2013

Dev Disabil Res Revs

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Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly sensitive to lipid storage as the contents of the central nervous system must occupy uniform volume, and any increases in fluids or deposits will lead to pressure changes and interference with normal neurological function. In addition to primary lipid storage diseases, lysosomal storage diseases include the mucolipidoses (in which excessive amounts of lipids and carbohydrates are stored in the cells and tissues) and the mucopolysaccharidoses (in which abnormal glycosylated proteins cannot be broken down because of enzyme deficiency). Neurological dysfunction can be a manifestation of these conditions due to substrate deposition as well. This review will explore the modalities of neuroimaging that may have particular relevance to the study of the lipid storage disorder and their impact on elucidating aspects of brain function. First, the techniques will be reviewed. Next, the neuropathology of a few selected lipid storage disorders will be reviewed and the use of neuroimaging to define disease characteristics discussed in further detail. Examples of studies using these techniques will be discussed in the text.

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