General News

GLIA-CTN COVID-19 Town Hall

GLIA-CTN COVID-19 Town Hall

The GLIA-CTN Executive Committee is excited to announce an upcoming COVID-19 Town Hall intended to explore how and what to communicate with leukodystrophy patients and families during the ongoing COVID-19 public health emergency. The meeting will be hosted by Dr. Al...

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Coronavirus Resources

Coronavirus Resources

Courtesy of SWANAUS, we have provided some resources to assist you during the COVID-19 pandemicMental Health Resources This Way UpHead to HealthSchool TVHeadspaceLifelineBeyond BlueParentline Useful Resources Coronavirus - ALDCoronavirus - Social story 1Coronavirus -...

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Massimo’s Mission has LIFT OFF!

Massimo’s Mission has LIFT OFF!

Massimo’s Mission has LIFT OFF! Massimo's Mission, a clinical and research program in childhood leukodystrophies, is now recruiting Australians facing challenges in obtaining a confirmed genetic diagnosis for a suspected leukodystrophy. Massimo’s Mission is a...

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The National Strategic Action Plan for Rare Diseases

The National Strategic Action Plan for Rare Diseases

Australian academics first called for a national plan for rare diseases in 2010, so it is with great excitement that the National Strategic Action Plan for Rare Diseases (the Action Plan) has been launched. Rare Voices Australia (RVA) has led the collaborative...

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National Strategic Plan for Rare Disease 2020

National Strategic Plan for Rare Disease 2020

https://www.rarevoices.org.au/page/167/national-strategic-action-plan-for-rare-diseases https://www.health.gov.au/ministers/the-hon-greg-hunt-mp/media/first-national-action-plan-for-rare-diseasesThe Murdoch Children’s Research Institute’s (MCRI) Rare Diseases Now...

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Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia

Courtsey of BMC Neurology: Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood. The present report describes the clinical, neuroimaging, and genetic findings of a female patient with adult-onset VWMD. In addition, to provide a clearer delineation of the clinical and genetic characteristics of female adult-onset VWMD patients, 32 genetically confirmed female adult-onset EIF2B-mutated cases are summarized.

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