Case report identifies novel CLMN::SYNE3 chimeric transcript in SCA30 family
A Gene Fusion Is Causing A Rare Ataxia In One Family
This research article reports a genetic analysis of a family with spinocerebellar ataxia.
A gene mix-up that creates a faulty protein is the likely cause of a rare, inherited movement disorder in one family, opening a path to a pr…
Brain atrophy patterns evolve from lower brainstem in spinocerebellar ataxia type 1 cohort study
New MRI maps show exactly how SCA1 eats away at the brain
This cohort study examined brain atrophy patterns in 152 SCA1 participants and 131 healthy controls across seven sites.
New brain scans reveal a specific pattern of damage in SCA1 that starts lower down and moves up, changing how doctors track the disease.
Mini-review discusses ATM protein role in neural stem progenitor cells in ataxia telangiectasia
How a Brain’s “Master Switch” Controls Child Brain Development
This minireview examines the function of ATM protein in neural stem progenitor cells (NSPC) within the context of ataxia telangiectasia.
Understanding how ATM protein guides brain cell growth could lead to better treatments for a rare childhood brain disorder.
Meta-analysis of HSCT with treosulfan in Ataxia Telangiectasia patients shows mixed survival outcomes and significant toxicities
A Teen With a Rare Disease Beat Leukemia After a Risky Transplant
This systematic review and meta-analysis evaluated hematopoietic stem cell transplantation (HSCT) using treosulfan in 16 patients with Ataxi…
A 16-year-old with a rare genetic disease survived leukemia after a tailored stem cell transplant, offering new hope for others with this fr…
Observational study finds no association between ZFHX3 GGC repeat expansions and ALS risk
New DNA Scan Rules Out ALS Link
This observational research article examined ZFHX3 GGC repeat expansions in 5,785 people with ALS and 7,982 healthy controls.
A major genetic test confirms that a specific repeat in your DNA does not cause ALS, even though it can cause a different movement disorder.