Evaluation, Treatment, and Management


On a patient’s first visit, you will meet with both a physician and genetic counselor to gather a comprehensive personal and family medical history. We may recommend testing to understand the pattern and severity of the condition. These tests may include blood work, tissue biopsies, and/or imaging  to help doctors determine the extent of disease.

Types of Treatment

Treatment of a neurogenetic disease requires a tailored approach. It may include medications, supplements, physical and/or cognitive rehabilitation, changes in diet, as well as mental, emotional, and social support. Since many neurogenetic diseases affect more than just the nervous system, the care we provide is collaborative and comprehensive: experts from other specialties at NYU Langone are often brought in for consultation, evaluation, and guidance on non-neurological health issues.

For some of the LSDs, intravenous enzyme replacement therapy (ERT) is available. This involves the regular intravenous administration of the enzyme (a protein) to make up for the deficiency. Adult patients receive ERT infusions at our Infusion Center on the fourth floor of the Center for Musculoskeletal Care. For our pediatric patients, infusions take place at the Stephen D. Hassenfeld Children’s Center for Cancer and Blood Disorders. The Infusion Centers are staffed at all times by a doctor or nurse practitioner.

In particular, for our Gaucher population, there are: three FDA-approved enzyme replacement therapies (Cerezyme®, VPRIV®, Elelyso™) and two FDA-approved oral substrate reduction inhibitor (Cerdelga®, Zavesca®). Our doctors and nurse practitioners are experienced in prescribing and managing each patient’s unique and tailored medications.

Care Management

We understand that neurogenetic disorders can be difficult and disruptive in the lives of patients and families. Our clinicians are skilled at providing long-term, compassionate, and hands-on care to make the experience of coping with a chronic illness as easy and comfortable as possible.

This ranges from closely monitoring patients’ infusion therapy and making adjustments when necessary, to coordinating among a multidisciplinary team of specialists, including cardiologists, pulmonologists, and orthopaedic and rehabilitation experts.

We are also able to connect patients and family members with support groups and with other families who have faced similar challenges.

Genetic Counseling

Neurogenetic diseases may result from an affected individual inheriting genes from one or both parents depending whether the disease is inherited in a dominant or recessive manner, respectively. To determine if future generations are at risk of developing a neurogenetic disease, parents are usually advised to consider genetic counseling. Our experienced, board-certified genetic counselors in the Division of Medical Genetics offer this service.

Clinical Trials

As physicians at a major research and academic medical center, our doctors are able to enroll patients in clinical trials that can result in new forms of treatment and earlier diagnosis for individuals with neurogenetic disorders.

We are involved in a wide range of studies to improve the medical and scientific community’s understanding, management, and treatment of neurogenetic diseases. This includes studies to improve evaluation of the severity and rate of progression of inherited diseases; develop and maintain disease registries; and assist in the clinical research exploring pill-based and new enzyme therapies.

Our experts work closely with patients to determine whether a particular clinical trial may benefit them.

To schedule an appointment or to find out more about the Neurogenetics Program at NYU Langone Medical Center, please call us at 212-263-7744.