Hereditary Spastic Paraplegia News and Research

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Using brain organoids to test gene therapies for a rare disease in children

Brain tissue grown in a laboratory by University of Queensland researchers will be used to test a treatment for a rare disease in children and help unlock therapies for a range of neurological disorders.

5 Apr 2023

Researchers discover a new role for one of the genes linked to hereditary spastic paraplegia

Researchers from the University of Seville and the Seville Institute of Biomedicine (IBiS), in collaboration with the University of Cambridge, have identified a new role for one of the genes related to hereditary spastic paraplegia.

27 Mar 2023

Research shows the role of PCYT2-mediated lipid synthesis in vertebrate muscle health

Muscle degeneration, the most prevalent cause of frailty in hereditary diseases and aging, could be caused by a deficiency in one key enzyme in a lipid biosynthesis pathway.

20 Mar 2023

Genetic discovery may pave the way to new diagnostic approaches, treatments for motor neurone diseases

A new genetic discovery adds weight to a theory that motor neurone degenerative diseases are caused by abnormal lipid (fat) processing pathways inside brain cells.

20 Jun 2022

Search for a treatment to stop nerve cell degeneration yields promising results

Researchers at the University of Illinois Chicago found promising results in their search for a treatment to stop nerve cell degeneration that happens in some types of disorders, such as hereditary spastic paraplegia and Parkinson's disease, which can cause significant disability.

17 Feb 2022

Targeting the brain should be the focus of ALS therapy, not just spinal cord

The brain is indeed a target for treating ALS (amyotrophic lateral sclerosis), Northwestern Medicine scientists have discovered.

4 Dec 2021

Scientists identify new compound that reverses ALS neuron damage

Northwestern University scientists have identified the first compound that eliminates the ongoing degeneration of upper motor neurons that become diseased and are a key contributor to ALS (amyotrophic lateral sclerosis), a swift and fatal neurodegenerative disease that paralyzes its victims.

23 Feb 2021

Early, late stages of neurodegeneration are distinct, finds study

Rice University biochemists Michael Stern and James McNew have studied how neurodegeneration kills cells.

23 Nov 2020

Study pinpoints electrophysiological mechanism behind upper motor neuron disease

Scientists from Northwestern Medicine and the University of Belgrade have pinpointed the electrophysiological mechanism behind upper motor neuron disease, unlocking the door to potential treatments for amyotrophic lateral sclerosis and other neurodegenerative diseases, such as Hereditary Spastic Paraplegia and Primary Lateral Sclerosis.

21 May 2020

Discovery could pave the way towards new treatments for neurological disorders

Scientists at the University of Warwick have discovered a new process that sets the fastest molecular motor on its marathon-like runs through our neurons.

16 Jul 2019

New insights into molecular motors could help treat neurological disorders

Nerve cells form the basis of the nervous system in animals, as they transfer information between the various sensory and effector organs of the body and the brain and spinal cord. However, this function relies heavily on the transport of several proteins and other molecules between various parts of the cell.

15 Jul 2019

Scientists focus on critical regulatory protein to find clues on cancer, neurodegenerative diseases

James McNew's and Michael Stern's biochemical hunt for the root cause of a rare, paralyzing genetic disorder is a 10-year quest that's taken an unexpected turn toward everyday killers such as Alzheimer's disease, cancer and aging.

30 Jun 2018

Discovery of new ALS gene points to cytoskeleton as potential target for drug development

An international team of researchers led by John Landers, PhD, at UMass Medical School, and Bryan Traynor, MD, PhD, at the National Institute on Aging at the National Institutes of Health, has identified KIF5A as a new gene associated with the development of amyotrophic lateral sclerosis.

21 Mar 2018

Research findings suggest potential strategies to combat IBMPFD and other degenerative diseases

UCLA researchers have discovered the molecular basis of, and identified potential treatment for, an incurable disease known as inclusion body myopathy, Paget disease with frontotemporal dementia, or IBMPFD.

21 Mar 2017

MNI scientists move a step forward in efforts to treat hereditary spastic paraplegia

Scientists at the Montreal Neurological Institute and Hospital have identified novel gene mutations that cause hereditary spastic paraplegia (HSP), a step forward in efforts to treat this debilitating disease.

11 May 2016

Hereditary spastic paraplegia characteristics unveiled

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

15 Feb 2016

Invitae announces dramatic expansion of genetic testing menu

Invitae Corporation (NYSE: NVTA), a genetic information company, has announced that it has more than doubled the size of its genetic testing platform to include more than 600 genes and will begin releasing the new content between now and the end of the year. Invitae is immediately expanding its menu with dozens of new test panels for hereditary cancer, cardiovascular, neuromuscular, pediatric and other rare disorders.

7 Oct 2015

TSRI study points way to potential therapies for hereditary spastic paraplegia

Scientists at The Scripps Research Institute have discovered that a gene mutation linked to hereditary spastic paraplegia, a disabling neurological disorder, interferes with the normal breakdown of triglyceride fat molecules in the brain. The TSRI researchers found large droplets of triglycerides within the neurons of mice modeling the disease.

30 Sep 2014

UC San Diego researchers uncover causes for hereditary spastic paraplegia

In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia. HSP is characterized by progressive stiffness and contraction of the lower limbs and is associated with epilepsy, cognitive impairment, blindness and other neurological features.

31 Jan 2014

Advanced understanding of neurodegenerative diseases achieved by Trophos

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for indications with under-served needs in neurology and cardiology, announces today the conclusion of the pan-European MitoTarget Project, the EU funded orphan disease project, with submission of the final report to the EC.

31 Jul 2012