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Heather A. 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

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

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

Heather Lau, MD

How do the neurological symptoms of classical FD present in male vs female populations, and what other concurrent symptoms should the clinician inquire about to corroborate the diagnosis?

How do the neurological symptoms of classical FD present in male vs female populations, and what other concurrent symptoms should the clinician inquire about to corroborate the diagnosis?

Heather Lau, MD

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

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

Heather Lau, MD

What is the pattern of progression of neurological symptoms of Fabry Disease?

What is the pattern of progression of neurological symptoms of Fabry Disease?

Heather Lau, MD

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?

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?

Heather Lau, MD

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?

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?

Heather Lau, MD

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?

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?

Heather Lau, MD

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?

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?

Heather Lau, MD

Why is it important to recognize the neurological manifestations of FD? What advantages accrue to the patient from early diagnosis? In which target organs affected by FD can we potentially ameliorate disease progression?

Why is it important to recognize the neurological manifestations of FD? What advantages accrue to the patient from early diagnosis? In which target organs affected by FD can we potentially ameliorate disease progression?

Heather Lau, MD

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?

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?

Heather Lau, MD

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 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?

Heather Lau, MD

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

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

Heather Lau, MD