Ataxia News and Research

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Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying disfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.

Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis

UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions.

6 Apr 2016

Researchers identify new mutation responsible for spinocerebellar ataxia

Using the genetic information of two different families with three generations of disease, researchers have identified a new mutation responsible for a degenerative and ultimately fatal movement disorder. Through induced pluripotent stem cell techniques, researchers also grew neurons from one patient in the laboratory to be used in future experiments.

15 Mar 2016

Study identifies gene linked to rare, complex diseases

IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells—cells with fine filaments that move fluids and substances—which are found exclusively in the brain, respiratory tract, and reproductive system.Defects in multiciliated cells lead to ciliopathies—rare and complex diseases that are poorly understood and for which not all causative genes have been identified.

3 Mar 2016

Synthetic RNA and DNA could reverse protein deficiency that causes Friedreich's ataxia

Researchers at UT Southwestern Medical Center have identified synthetic RNA and DNA that reverses the protein deficiency causing Friedreich's ataxia, a neurological disease for which there is currently no cure.

17 Feb 2016

Hereditary spastic paraplegia characteristics unveiled

Researchers have detailed the characteristics of a large cohort of patients with hereditary spastic paraplegias.

15 Feb 2016

Neurocutaneous disorders affect skin, nervous system

One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system.

25 Jan 2016

NIH-funded analysis identifies three genes that contribute to most common form of glaucoma

An analysis funded by the National Eye Institute (NEI), part of the National Institutes of Health, has identified three genes that contribute to the most common type of glaucoma. The study increases the total number of such genes to 15.

12 Jan 2016

Scientists discover molecular mechanism responsible for degeneration of Purkinje cells in SCA1

Scientists from Bern have discovered a mechanism which is responsible for the degeneration of Purkinje cells in the cerebellum in a neurodegenerative disease called Spinocerebellar ataxia type 1. The results of their study open up new avenues for the future treatment of cerebellum associated degenerative disorders.

7 Jan 2016

Acute bulbar palsy variant of Guillain-Barré syndrome found

Researchers have identified a new variant form of Guillain-Barré syndrome that is characterised by prominent acute bulbar palsy without neck or limb weakness.

5 Jan 2016

Researchers identify biochemical factors that may predict Alzheimer's disease

Investigators have wondered why the brains of some cognitively-intact elderly individuals have abundant pathology on autopsy or significant amyloid deposition on neuroimaging that are characteristic of Alzheimer disease (AD).

22 Dec 2015

Amgen’s Phase 2 data supports safety, efficacy of BLINCYTO in ALL patients with minimal residual disease

Amgen today announced that new data from three Phase 2 trials support the efficacy and safety of BLINCYTO (blinatumomab) in adults with acute lymphoblastic leukemia (ALL).

8 Dec 2015

UF Health investigators make new discovery about Huntington's disease

University of Florida Health researchers have made a new discovery about Huntington's disease, showing that the gene that causes the fatal disorder makes an unexpected "cocktail" of mutant proteins that accumulate in the brain.

19 Nov 2015

MedUni Vienna researchers discover genetic cause of a rare disease

Researchers at MedUni Vienna have discovered the genetic cause of a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy and ataxia (a movement disorder), when they reach school age.

15 Nov 2015

Sanford Research scientists develop animal model to study neurodegenerative disease

Sanford Research scientists have developed a pig model for a neurodegenerative disease that could help better treat the disorder and other physiological conditions. The findings of the project are published in Human Molecular Genetics.

4 Nov 2015

Cardiac monitoring predicts survival in patients with Friedreich ataxia

Researchers confirm the need for cardiac follow-up in patients with Friedreich ataxia, with particular focus on left ventricular ejection fraction as a predictor of worse prognosis.

12 Oct 2015

Predicting better immunotherapy response, neurological outcomes in adults with autoimmune cerebellar ataxia

While autoimmune cerebellar ataxia (a loss of muscle control coordination) can lead to severe disability with some patients becoming wheelchair-bound, there are factors that may help predict better immunotherapy response, according to the Mayo Clinic study published by JAMA Neurology.

30 Sep 2015

Serologic status and autoimmune cerebellar ataxia type predict treatment response

Patients with autoimmune cerebellar ataxia have better treatment responses and outcomes if they have the nonparaneoplastic form of the condition and are seropositive for neural plasma membrane protein or glutamic acid decarboxylase 65 antibodies, suggests research.

29 Sep 2015