Electrophysiological studies in cerebrotendinous xanthomatosis.

Tokimura, Yoshika; Kuriyama, Masaru; Arimura, Kimiyoshi; Fujiyama, Jiro; Osame, Mitsuhiro

doi:10.1136/jnnp.55.1.52

Cited by 25 publications

(17 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…9, 70, 71, 72, 73 Treatment is effective in that it can alleviate some constitutional, neurologic and even psychiatric symptoms. 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: 70%

Psychiatric manifestations in cerebrotendinous xanthomatosis

Fraidakis

2013

Transl Psychiatry

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 70%

Psychiatric manifestations in cerebrotendinous xanthomatosis

Fraidakis

2013

Transl Psychiatry

View full text Add to dashboard Cite

show abstract

“…Reported computed tomography (CT) abnormalities include cerebellar white matter hypodensities above and below the tentorium (Berginer et al 1984;Waterreus et al 1987). EEG abnormalities are common and may be characterized by diffuse irregular slow theta and delta activity with frequent sharp wave discharges; however, these abnormalities are not unique to CTX (Waterreus et al 1987;Berginer et al 1984;Berginer et al 1982;Tokimura et al 1992).…”

Section: Diagnosis and Testingmentioning

confidence: 99%

“…Abnormalities in patients with CTX have been reported for visual evoked potential (VEP), somatosensory evoked potential (SSEP), brainstem auditory evoked potential (BAEP), and nerve conduction velocity (NCV) studies, which may reflect delayed central conduction (Pilo-de-la-Fuente et al 2011;Tokimura et al 1992;Ginanneschi et al 2013). Electromyography (EMG)/NCV findings demonstrating motor or sensorimotor axonal neuropathy, demyelinating neuropathy, and mixed neuropathy have been reported (Pilo-de-laFuente et al 2011;Ginanneschi et al 2013;Verrips et al 2000b).…”

Section: Diagnosis and Testingmentioning

confidence: 99%

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

Salen

Steiner

2017

J of Inher Metab Disea

130

150

View full text Add to dashboard Cite

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27‐hydroxylase enzyme. CTX is associated with abnormally high levels of cholestanol in the blood and accumulation of cholestanol and cholesterol in the brain, tendon xanthomas, and bile. Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction. Although CTX is a rare disorder, it is thought to be underdiagnosed, as presenting signs and symptoms may be nonspecific with significant overlap with other more common conditions. There is marked variability in signs and symptoms, severity, and age of onset between patients. The disease course is progressive and potentially debilitating or fatal, particularly with respect to neurologic presentations that can include intellectual disability, autism, behavioral and psychiatric problems, and dementia, among others. Treatment with chenodeoxycholic acid (CDCA; chenodiol) is the current standard of care. CDCA can help restore normal sterol, bile acid, bile alcohol, and cholestanol levels. CDCA also appears to be generally effective in preventing adverse clinical manifestations of the disease from occurring or progressing if administered early enough. Improved screening and awareness of the condition may help facilitate early diagnosis and treatment.

show abstract

“…It is only later in life that patients show psychomotor decline, and the typical tendon xanthomas. Daily oral supplementation with 750mg of chenodeoxycholic acid, a bile salt, typically corrects the biochemical abnormalities and may reverse some clinical symptoms [32, 33]. Some experience suggests that earlier treatment initiation may correlate with better outcomes [34].…”

Section: Cerebrotendinous Xanthomatosis (Ctx)mentioning

confidence: 99%

Disease specific therapies in leukodystrophies and leukoencephalopathies

Helman

Haren

Bonkowsky

et al. 2015

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

The leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches. Recently, a greater understanding of the pathologic mechanisms associated with leukodystrophies has allowed clinicians and researchers to prioritize treatment strategies and advance research in therapies for specific disorders, some of which are on the verge of pilot or phase I/II clinical trials. This shifts the care of leukodystrophy patients from the management of the complex array of symptoms and sequelae alone to targeted therapeutics. The unmet needs of leukodystrophy patients still remain an overwhelming burden. While the overwhelming consensus is that these disorders collectively are symptomatically treatable, leukodystrophy patients are in need of advanced therapies and if possible, a cure.

show abstract

Electrophysiological studies in cerebrotendinous xanthomatosis.

Cited by 25 publications

References 18 publications

Psychiatric manifestations in cerebrotendinous xanthomatosis

Psychiatric manifestations in cerebrotendinous xanthomatosis

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

Disease specific therapies in leukodystrophies and leukoencephalopathies

Contact Info

Product

Resources

About