The Division of Neurogenetics of the Department of Neurology at Mount Sinai is focused on improving the diagnosis and management of patients with neurological manifestations from rare genetic diseases. We are dedicated to the evaluation, diagnosis, and treatment of neurogenetic disorders across the life span. Our multidisciplinary team includes pediatric and adult neurologists who share a special interest in neurological disorders with a strong genetic predisposition, in close collaboration with colleagues in medical genetics.  

Reasons for Referral 

We help patients and families with symptoms and signs of unknown cause or suspected genetic causes. Below are a few examples of conditions that could lead to a referral to Neurogenetics:

Hypotonia with developmental delay Neurodevelopmental or neurodegenerative
Congenital or acquired abnormal eye movement including nystagmus Neurodevelopmental or neurodegenerative
Multi-system manifestations Neurometabolic: Mitochondrial and other inborn errors of metabolism
Weakness and/or numbness Neuromuscular: Motor neuron disease, hereditary neuropathies, muscular dystrophies, myopathies, periodic paralyses
Neurofibroma, deafness Neuro-oncological: Neurofibromatosis NF1, NF2, and schwannomatosis
Abnormal movement or imbalance Movement disorders: Dystonia, Parkinsonism, chorea, tremor, cerebellar ataxia, episodic ataxia
Hemiplegic migraine or complex migraine Neurological channelopathies
Unexplained stroke, unusual white matter disease Neurovascular: familial stroke syndromes, e.g. CADASIL, CARASIL, RVCL

Our Research 

We are actively recruiting participants in a neurogenetic registry to track natural history and discover biomarkers to develop new personalized gene-specific treatments. We conduct research on rare undiagnosed neurological disorders to identify novel mutations and genes and how these genetic changes may lead to symptoms. We are engaged in pilot studies in gene therapy for rare monogenic neurogenetic disorders.

Our Clinics

You may contact any of our clinics below with your referral information:

Neurogenetic Consultation
1468 Madison Avenue, 2nd Floor
2nd Mondays, 1 – 5 p.m.


Pediatric Clinic
1468 Madison Avenue
Annenberg Building, 4th FL
New York, NY 10029
Phone: 212-831-4393

Adult Clinic
1468 Madison Avenue
Annenberg Building, 2nd FL
New York, NY 10029
Phone: 212-824-8579

Neurometabolism Clinic
1428 Madison Avenue
Atran Building, 1st Floor
New York, NY   10029
Phone: 212-241-6947