Rare Diseases

Current bibliography for experts

"Ksantomatozis" search results...

CTX

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

2023-03-07

This report discusses the case of a middle-aged Cerebrotendinous Xanthomatosis (CTX) patient with an unusual phenotype of behavioral variant frontotemporal dementia (bvFTD).

CTX

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure

2022-09-26

This article presents an instance of cerebrotendinous xanthomatosis (CTX) manifest as neonatal cholestasis (NC) and requiring liver transplantation (LT).

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

2022-05-01

This case report emphasizes the necessity of keeping a high index of suspicion as the key to a timely diagnosis of cerebrotendinous xanthomatosis (CTX), which has a clinical diversity and, if detected early, the favorable treatment response.

CTX

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

2022-02-10

This is the widest review of CTX (cerebrotendinous xanthomatosis) cases reported between the years 2000-2021. This study reports the largest cohort of Polish patients ever published, with the identification of two hot-spot mutations.

CTX

Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

2021-10-25

The aim of this study was to determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey.

CTX

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

2020-11-06

This article is a case study that includes a Chinese family with Cerebrotendinous xanthomatosis (CTX) which had one patient and four heterozygous carriers. The clinical, biological, radiological, and genetic characteristics of CTX are summarized in order to aid in early detection and treatment. This study emphasizes that genetic analysis of the CYP27A1 gene should be the gold standard for CTX diagnosis.

CTX

Cerebrotendinous xanthomatosis: A report of 3 cases

2020-10-16

In this article, three cases of cerebrotendinous xanthomatosis with similar clinical symptoms are presented to demonstrate the necessity of early diagnosis.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...