Neurogenetics
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 - 5pm
neurogen@mssm.edu
Neurometabolism Clinic
1428 Madison Avenue
Atran Building, 1st Floor
New York, NY 10029
Phone: 212-241-6947
