Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team in Bochum and Tübingen has now solved one piece of the puzzle: The ...

Autosomal recessive spastic ataxia encompasses a spectrum of early-onset neurodegenerative disorders most notably exemplified by ARSACS, in which biallelic mutations in the SACS gene lead to loss or ...

Genetic analysis of the large patient cohort was conducted in Tübingen under the supervision of Dr. Tobias Haack. Functional characterization of the newly identified disease gene was led by Dr. Jonasz ...

In total, 76 patients with CA (n=28) or HSP (n=48) were included for clinical exome sequencing. The cohort was largely nonconsecutive. Patients with a visiting history from our center were selected ...

Researchers have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: Hereditary spastic ataxia. This condition is characterized by lower-limb ...

The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on ...

Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis, is a term used for a group of inherited diseases that affect the upper motor neurons traveling from the brain through ...

What is causing this 55-year-old woman to have distorted speech and balance problems when walking, and why have her symptoms worsened progressively since they came on 14 years ago? Those are the ...