The Paris Adult Leukodystrophy Reference Center

Specialized in the diagnosis, care, and treatment of adult patients with leukodystrophies, or genetic white matter diseases of the brain.

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The Paris Adult Leukodystrophy Reference Center

Specialized in the diagnosis, care, and treatment of adult patients with leukodystrophies, or genetic white matter diseases of the brain.

Learn more

Adult Leukodystrophies

Leukodystrophies are rare genetic diseases that impair the synthesis or maintenance of myelin, primarily affecting glial cells.

They are categorized into two types: hypomyelinating and demyelinating leukodystrophies.

These progressive neurodegenerative diseases can manifest during childhood, adolescence, or adulthood.

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The Team

The Reference Center for Adult Leukodystrophy is multidisciplinary team that aims to provide the best support to patients diagnosed with leukodystrophies. It consists of physicians, a neuropsychologist, a psychologist, engineers, a dietitian, a genetic counselor, a secretary, and a social worker.

See the entire team

Clinical Trials

Our clinical trials and studies focus on two major areas:

  • Researching biomarkers for early diagnosis to improve patient care;
  • Developing new therapies for leukodystrophies.

Some of our trials are still recruiting patients. You can contact us for more information.

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Therapeutic trials

Studies with treatments

Observational studies

Monitoring and progression of the disease

Fundamental research studies

Blood collection from affected patients for analysis

Our Publications and Communications

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Actualité : Diagnostic Approach for Adult Metabolic Leukodystrophy
Publications
· 11 December 2024

Diagnostic Approach for Adult Metabolic Leukodystrophy

Metabolic leukodystrophies should be considered in all patients with patterns of white matter abnormalities that are not evocative of an inflammatory or vascular process. Metabolic leukodystrophies typically present with bilateral and symmetrical white matter involvement, either fascicular or confluent. Biochemical analyses should be conducted as first-line investigations, including blood tests for cholestanol, homocysteine, very long-chain […]
Actualité : Characterizing Late-Onset MTHFR Deficiency
MediaPublications
· 11 December 2024

Characterizing Late-Onset MTHFR Deficiency

In this podcast, we discuss the clinical presentations and imaging findings of adult patients with MTHFR (methylenetetrahydrofolate reductase) deficiency. This rare disease, often associated with leukodystrophy, is treatable but still under-recognized in adults. Most patients develop symptoms in childhood, but adult-onset forms exist, making it important for neurologists and internists to know about this condition and search for it through the measurement of homocystein levels.

Therapeutic Education for Patients

Our therapeutic education program for patients (in French, Education Thérapeutique du Patient, ETP) called “Leucodyssée,” is directed to patients, parents of minors, and caregivers. It consists of five workshops that will allow attendees to own and better manage their disease.

See the program

Upcoming Events

Discover our upcoming events, multidisciplinary consultation meetings (in French Réunion de Concertation Pluridisciplinaire, RCP), and Leucodyssée workshops.

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Our Network

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