Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G&gt;A Splice Site Mutation

Desai, Karan; Kumar, Piyush; Ravat, Parthvi S.; Ravat, Sangeeta; Jain, Neeraj; Agrawal, Shruti; Ansari, Rahil

doi:10.1016/j.ebr.2020.100401

Cited by 3 publications

(2 citation statements)

References 12 publications

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“…In the case reported by Rossi et al, the patient had progressive ataxia and palatal tremor phenotype of CTX without xanthoma or cataract. In addition, there were a few reports of postural upper limb tremor and distal predominant myoclonus in CTX [ 14 15 16 ]. Myoclonus in CTX has been reported to be of subcortical origin based on the electrophysiological findings and may resemble postural tremor to the untrained eyes [ 14 15 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis – a Video Case Series from India

Katragadda,

Holla,

Kamble

et al. 2024

Tremor and Other Hyperkinetic Movements

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Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to describe the clinical, radiological and genetic profile of patients with CTX. Methods: This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings. The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented. Results: Five patients (4 males) were recruited in the study. The median age at presentation was 32 years (range: 21–66 years). Walking difficulty was the most common symptom at presentation. All patients had cataracts, tendon xanthomas, eye movement abnormalities, dysarthria, pyramidal signs, ataxia and gait abnormality. Dystonia was noted in three patients. Palatal tremor and parkinsonism were noted in one patient each. In MRI brain, dentate, and corticospinal tract involvement were the most frequent imaging findings. Bilateral hypertrophic olivary degeneration was noted in one patient and hot cross bun sign in two. Three patients underwent genetic testing and all had pathogenic variants confirming the diagnosis. Discussion: CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, it can present at a later age with parkinsonism. Typical patterns of imaging findings are helpful in early diagnosis which aids in the treatment to prevent the neurological sequelae of the disease.

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Section: Discussionmentioning

confidence: 99%

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis – a Video Case Series from India

Katragadda,

Holla,

Kamble

et al. 2024

Tremor and Other Hyperkinetic Movements

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“…Seizures are mostly generalized tonic-clonic, sometimes myoclonic. 24,68 Epilepsy in CTX cases seems to respond well to anticonvulsants or resolve with CDCA treatment. 25 Interestingly, abnormal EEG recordings are common (60%-77%) even in patients without any signs of seizures.…”

Section: Epilepsymentioning

confidence: 99%

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

et al. 2021

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Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset cataracts, Achilles tendons xanthomas, and progressive ataxia. It is currently one of the few inherited neurometabolic disorders amenable to a specific treatment. The diagnosis may be significantly delayed resulting in permanent neurological impairment. A retrospective review of the clinical characteristics and diagnostic findings in case series of six Polish patients with CTX.Additional retrospective review of symptoms and pathogenic variants of 568 CTX available cases and case series from the past 20 years. To the best of our knowledge, this is the widest review of CTX cases reported in years 2000-2021. We report the largest cohort of Polish patients ever published, with the identification of two hot-spot mutations. During the review of available 568 cases, we found significant differences in the clinical phenotypes and the localization of variants within the gene between Asian and non-Asian populations. These findings may facilitate molecular testing in the Polish and Asian populations. Invariably better screening for CTX and wider awareness is needed.

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Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Zimmern,

Minassian

2024

Genes

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The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable timeframe. While each of the disorders is individually rare, they collectively make up a non-trivial portion of the complex epilepsy and myoclonus cases that are seen in tertiary care centers. The last decade has seen substantial progress in our understanding of the pathophysiology, diagnosis, prognosis, and, in select disorders, therapies of these diseases. In this scoping review, we examine English language publications from the past decade that address diagnostic, phenotypic, and therapeutic advances in all PMEs. We then highlight the major lessons that have been learned and point out avenues for future investigation that seem promising.

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Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Cited by 3 publications

References 12 publications

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis – a Video Case Series from India

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis – a Video Case Series from India

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

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