Neuropathy Gene Registry


Does Neuropathy Run in Your Family?

If you and other close family members have neuropathy, or share unexplained symptoms including widespread chronic pain or itching, chronic fatigue, fibromyalgia, irritable bowel, or unexplained nausea, you may have an inherited (genetic) form of small-fiber neuropathy. These conditions are rare and often difficult for general physicians to recognize. Some families go for generations without an accurate medical diagnosis or effective treatment. Or, you may be someone who has had a genetic test identifying neuropathy genes, and you have questions.

To help, hosts a secure online registry for people with diagnosed or suspected inherited small-fiber neuropathy. The Neuropathy Gene Registry provides patients a private portal to access expert medical information and, if desired, connect with others with similar conditions.



If you have been diagnosed with a genetic neuropathy, please click the button for care and research.
If you suspect you have a genetic neuropathy, see About Genetic Testing.                   


A Team of Global Experts

The Neuropathy Gene Registry will connect you to internationally known experts. They can help with questions about genetic testing, identified neuropathy genes, and direct patients to our global neuropathy specialists. Our goal is to facilitate testing, diagnosis, and treatment, and help educate patients and providers. You can also ask your doctor to contact us on your behalf, if you prefer.

The registry will also help researchers to communicate with people with rare genetic neuropathies to learn more about these lifelong conditions. Based at the Massachusetts General Hospital Nerve Unit, the registry will allow geneticists to gain a fuller understanding of the symptoms associated with specific mutations, and what tests and treatments work best. The goal is to improve care and treatment for all people with these conditions.

We have a genetic specialist in your area.

Africa | Australia & New Zealand | Taiwan, Hong Kong, & China | Middle East | Northern Europe | South America | Southern Europe | United States



Michelle Kvalsund, MD
University of Zambia
& University Teaching Hospital
Lusaka, Zambia

Manoj MenezesAustralia & New ZealandWorldAustralia

Manoj Menezes, MD
Peripheral Neuropathy Service
The Children's Hospital at Westmead
Westmead, Australia

Hsieh85x115Taiwan, Hong Kong, & ChinaWorldChina

Sung-Tsang Hsieh, MD PhD MPH
Attending Neurologist, Department of Neurology
Professor, Department of Anatomy and Cell Biology
National Taiwan University Hospital
Taipei, Taiwan

NaamaOrenstein85x115Middle EastWorldMiddleEast

Naama Orenstein, MD
Schneider Children's Medical Center of Israel
Clinical and Pediatric Genetics
Petach Tikva

VincentTimmerman85x115 Northern EuropeWorldNorthernEurope

 Vincent Timmerman, PhD
 Professor of Molecular Genetics
 Flanders Institute for Biotechnology (VIB)
 University of Antwerp 
 Antwerp, Belgium

FranciscoGondim85x115South AmericaWorldSouthAmerica

Francisco Gondim, MD MSc PhD
Professor of Neurology
Universidade Federal do Ceará 
Hospital Leonardo da Vinci
Fortaleza, Brazil

Vincenzo ProviteraSouthern EuropeWorldSouthernEurope

Vincenzo Provietera, MD
"Maugeri" Clinical Scientific Institutes
Institute of Pavia
Benevento, Italy

StephanZuchner85x115United StatesWorldUS

Stephan Zuchner, MD PhD
Professor for Human Genetics and Neurology
Chair, John D. Macdonald Foundation Department of Human Genetics
Co-director, John P. Hussman Institute for Human Genetics
University of Miami Miller School of Medicine, Miami, United States

Questions? Email us at

MaikeDohrn85x115Gene Registry Fellow

Maike Dohrn, MD
RWTH Aachen University Hospital
Neurology, Neuromuscular Outpatient Clinic and Sodium Channel Network Aachen
Aachen, Germany


Mary Kelley

NeuropathyCommons Fellow

Mary Kelley, DO
Associate Professor of Neurology
University of Texas Dell Seton Medical Center
Austin, United States



Gene Registry Intern

Madeleine Klein
Massachusetts General Hospital Nerve Unit
Boston, United States




Registry Director

Anne Louise Oaklander, MD PhD
Director, Massachusetts General Hospital Nerve Unit
Department of Neurology
Harvard Medical School
Boston, United States