Results 21 to 30 of about 3,629 (136)

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 2; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2023
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Orphanet Journal of Rare Diseases, 2018
Background Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization.
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson   +8 more
doaj   +1 more source

The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes

Journal of Neuroinflammation, 2022
Background Friedreich’s ataxia is a rare hereditary neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Similar to other neurodegenerative pathologies, previous studies suggested that astrocytes might contribute to
Andrés Vicente-Acosta, Alfredo Giménez-Cassina, Javier Díaz-Nido, Frida Loria   +3 more
doaj   +1 more source

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 1; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2021
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Test–retest reliability of the Friedreich’s ataxia rating scale

Annals of Clinical and Translational Neurology, 2020
The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam‐based neurological rating scale commonly used as a outcome measure in clinical trials.
Christian Rummey, Theresa A. Zesiewicz, Santiago Perez‐Lloret, Jennifer M. Farmer, Massimo Pandolfo, David R. Lynch   +5 more
doaj   +1 more source

Life-Threatening Adverse Reaction after Self-Initiated, Off-Label Use of High Dose Nicotinamide for the Treatment of Friedreich’s Ataxia

European Journal of Case Reports in Internal Medicine, 2015
A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3.
Nicolas Garin, Pierre Arnold
doaj   +1 more source

Late-Onset Friedreich’s Ataxia

Pediatric Neurology Briefs, 1993
Three adult patients from one family with late-onset Friedreich’s ataxia (LOFA) presenting after 25 years (mean age, 30 yrs) were compared with 13 children with classical FA presenting before 20 years (mean age, 13 yrs) and reported from the University ...
J Gordon Millichap
doaj   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Cisplatin and oxaliplatin cause the secretion of high mobility group box 1 (HMGB1) protein from cancer cells, which is necessary for initiation of immunogenic cell death (ICD). Calreticulin (CRT) translocation from the endoplasmic reticulum to the plasma
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia

Case Reports in Neurological Medicine, 2016
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene.
Michael Bonello, Partha Ray
doaj   +1 more source