Heather Lau, MD

Heather Lau, MD

Assistant Professor, Department of Neurology
Associate Director, Division of Neurogenetics
Director, Lysosomal Storage Disease Program
NYU Langone
New York, NY

Related Videos

How often is cryptogenic stroke or early onset stroke a marker of Fabry Disease in the young adult population, and what is the etiology of this neurological manifestation? Video

How often is cryptogenic stroke or early onset stroke a marker of Fabry Disease in the young adult population, and what is the etiology of this neurological manifestation?

Can you summarize the central importance of the neurological symptoms, findings and complications of FD? Video

Can you summarize the central importance of the neurological symptoms, findings and complications of FD?

Can you share with as an example of a patient who was ultimately diagnosed with Fabry Disease on the basis of neurological symptoms and why the diagnosis was almost missed initially, as it so often is in childhood and adolescents? Video

Can you share with as an example of a patient who was ultimately diagnosed with Fabry Disease on the basis of neurological symptoms and why the diagnosis was almost missed initially, as it so often is in childhood and adolescents?

What is the neuropathobiology of alpha-galactosidase A deficiency and how does this enzyme deficiency produce these heterogeneous neurological symptoms? Video

What is the neuropathobiology of alpha-galactosidase A deficiency and how does this enzyme deficiency produce these heterogeneous neurological symptoms?

What are the initial neurological manifestations of Fabry Disease as they present in childhood and adolescence? Video

What are the initial neurological manifestations of Fabry Disease as they present in childhood and adolescence?

What specific, additional testing—enzyme activity levels and/or genetic mutational assessment—is required in patients who present with neurologic symptoms characteristic of Fabry Disease? Video

What specific, additional testing—enzyme activity levels and/or genetic mutational assessment—is required in patients who present with neurologic symptoms characteristic of Fabry Disease?

Can you discuss some of the less well appreciated manifestations of Fabry Disease—vestibular dysfunction, hearing loss, and autonomic dysfunction—and how their presence can aid in making the diagnosis of Fabry Disease? Video

Can you discuss some of the less well appreciated manifestations of Fabry Disease—vestibular dysfunction, hearing loss, and autonomic dysfunction—and how their presence can aid in making the diagnosis of Fabry Disease?

Why is confirmatory, genetic testing mandatory for helping clinicians identify therapeutic agents that are best suited for an individual patient? And to determine whether a mutation is amenable to chaperone therapy? Video

Why is confirmatory, genetic testing mandatory for helping clinicians identify therapeutic agents that are best suited for an individual patient? And to determine whether a mutation is amenable to chaperone therapy?

Why do the heterogeneous neurological manifestations make the diagnosis extremely challenging? Do all patients with FD either present with or eventually develop such neurological symptoms as acroparesthesias? Video

Why do the heterogeneous neurological manifestations make the diagnosis extremely challenging? Do all patients with FD either present with or eventually develop such neurological symptoms as acroparesthesias?