UF Neurofibromatosis Center

Breakthrough News:

New study reveals treatment pathway for neurofibromatosis

Now, a national team of researchers including  James Wymer, M.D., Ph.D., a UF professor of neurology and director of the neuromuscular division, has identified a novel pathway for potential treatment of this distressing condition, which typically is diagnosed in childhood or early adulthood. Read more here!

 

Mission of the Neurofibromatosis Center

Neurofibromatosis (NF) is a set of complex genetic disorders that can affect almost every organ system, causing a predisposition for tumors to grow on nerves in the brain and throughout the body.

The mission of  the University of Florida NF Clinic is to provide exceptional care through groundbreaking research. To accomplish this mission, the center’s expert clinicians and laboratory scientists focus on accelerating the pace of scientific discovery and its application to the care of individuals with NF and related disorders. NF also provides a unique opportunity to understand many other disorders common in the general population, including adult and childhood brain tumors, breast cancer, autism, attention deficit, epilepsy, and learning disabilities.

The University of Florida NF Center is a collaboration between clinicians and laboratory scientists focused on accelerating the pace of scientific discovery and its application to the care of individuals with NF. Working together, we have created a unique collaborative environment where research is directed at changing the way we care for individuals and their families living with NF.

neurocutaneousWhat is a Neurocutaneous Syndrome?

A broad term for a group of neurologic (NEURO – brain, spine, and peripheral nerve) disorders that involve other parts of the body, and prominently the skin (CUTANEOUS). These diseases are lifelong conditions that affect the nervous system and other organ systems, and require comprehensive evaluation and follow up by expert physicians.

 

What are examples of Neurocutaneous Syndromes?

  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2
  • Tuberous Sclerosis Complex
  • Von Hippel-Lindau Syndrome
  • Sturge-Weber Syndrome
  • Schwannomatosis
  • Cerebelloretinal Hemangiomatosis
  • Ataxia-telangiectasia

What body parts are involved in these syndromes?

The brain, spinal cord, skin, liver, kidney, lungs and special sensory organs.

I am patient with a Neurocutaneous Syndrome. Why do I need to go to the Comprehensive Neurocutaneous Program at UFHealth?

These syndromes can be puzzling for non-specialists, and often require collective minds of many physicians before a clinical diagnosis is made. At the UF Comprehensive Neurocutaneous Syndrome program we are available to help you from the beginning and will look after your overall medical needs seamlessly. We will coordinate your care with clinical genetics, general neurology, epileptology, neuro-oncology, nephrology, ophthalmology and pulmonary medicine.

What is NF?back

Neurofibromatosis (NF) is a set of complex genetic disorders that affects almost every organ system, causing tumors to grow on nerves in the brain and throughout the body. While half of all affected people inherit the disorder, new cases can arise spontaneously through mutations (changes) in the NF genes.

Diagnosed most often in children and young adults, NF occurs worldwide and in all races, ethnic groups and both sexes. NF can appear in any family. Treatments for NF are presently aimed at controlling symptoms, but surgery can help to alleviate painful and disfiguring tumors.

Neurofibromatosis Type 1 (NF1)

Neurofibromatosis Type 1 (NF1) is among the world’s most common genetic disorders, occurring in about one of every 3,000 births. This makes it more widespread than cystic fibrosis, hereditary muscular dystrophy, Huntington’s disease and Tay Sachs combined.

In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening. NF1 can lead to problems within various systems, organs and functions of the body including:

  • Skin, bone and eye abnormalities
  • Nerve tumors
  • Optic nerve and other brain tumors
  • Learning and attention deficits
  • Heart defects

Neurofibromatosis Type 2 (NF2)photo of nose

 

Neurofibromatosis Type 2 (NF2) is significantly less common than NF1, occurring in approximately 1 out of every 40,000 births. Individuals affected by NF2 can develop:

Schwannomatosis

Schwannomatosis is a rare form of Neurofibromatosis, affecting approximately 1 in 40,000 people. Only recently recognized, this genetic condition does not have a clear pattern of inheritance. Common features of Schwannomatosis include the development of schwannomas on the cranial, spinal and peripheral nerves, which often result in issues with chronic pain and neurological dysfunction.

 

Meet our Multidisciplinary Teamphoto of a brain scan

Neurology and Medical Genetics

James P. Wymer, MD, PhD, CPI, FAAN Melvin Greer, MD Professor of Neurology

Hans H Shuhaiber, MD

Ashley Ghiaseddin, MD

Molecular Genetics and Microbiology

Margaret Wallace, PhD

Pediatric Genetics

Robert Zori, MD

Neuro-oncology

Sri Gururangan, MD, FRCPEdin

David Tran, MD, PhD

Ashley Ghiaseddin, MD

Epilepsy

Giridhar Kalamangalam, MD, DPhil

Jean Cibula, MD

Maria Hella, MD

Yue Wang, MD, PhD

Parrish Winesett, MD

Ophthalmology

Sonal Tuli, MD

Nephrology

Jogiraju Tantravahi, MD, PhD

Pulmonology

Ali Ataya, MD

Neurogenetics

Laura P.W. Ranum, PhD

 

Inquiries and Contact Information

Please ask for an appointment with Hans H. Shuhaiber, MD –  UF Neurofibromatosis Center Program Director-  at UF Neurology Shands Medical Plaza. UF Health Neurology – Medical Plaza

APPOINTMENTS: 352-294-5000  

FAX: 352-627-4295

ADDRESS: 2000 SW Archer Rd, 3rd Floor,

Gainesville, FL 32608

 

 

Helpful Links:

https://www.ctf.org/

https://www.uab.edu/nfconsortium/

https://clinicaltrials.gov/ct2/results?recrs=&cond=Neurofibromatosis+1&term=&cntry=&state=&city=&dist=