Rare Diseases

Current bibliography for experts

"Ataxia" search results...

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

2022-10-16

This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

NIEMANN-PICK

Clinical disease characteristics of patients with NiemannPick Disease Type C

2022-02-14

The collection of on-going large-scale Niemann-Pick Disease Type C (NPC) clinical data may generate better understandings of the natural history of the disease. This study reports NPC patient data from the International Niemann-Pick Disease Registry (INPDR).

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.

ALPHA-MANNOSIDOSIS

Long-term outcome of patients with alpha-mannosidosis - A single center study

2021-12-09

The aim of this study was to present the long-term follow-up of 12 Polish patients with alpha-mannosidosis (AM), evaluate the clinical, biochemical, and molecular findings and progression of the disease.

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

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

2018-07-04

Highlights: The object of this study was to determine neurological progression in CTX. We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.

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...