Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Synonyms: ALSP | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | Autosomal dominant leukoencephalopathy with neuroaxonal spheroids | FPSG | Familial dementia, Neumann type | Familial progressive subcortical gliosis | GPSC | HDLS | Hereditary diffuse leukoencephalopathy with spheroids | POLD | Pigmentary orthochromatic leukodystrophy | Subcortical gliosis of Neumann
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia apraxia apathy impaired balance parkinsonism spasticity and epilepsy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia?
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Advocacy Organizations
Aicardi-Goutieres Syndrome Advocacy Association
AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.
Alex, The Leukodystrophy Charity
Support and access to treatment for everyone living with leukodystrophy Provide support for those living with leukodystrophy, and their families/carers Raise awareness of leukodystrophy Improve best practice in prevention, diagnosis & treatment Support research initiatives
Bob Rauner
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
SISTERS’ HOPE FOUNDATION
The mission of Sisters’ Hope Foundation is to support and empower families impacted by HDLS/ALSP by: • educating the public to increase awareness around this rare disease • advocating for further research and funding to improve treatment options • connecting patients and families with this diagnosis to build community and support • providing financial assistance and resources to those in need
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
cure LBSL
Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.