Publications by authors named "Amanda Fiander"
Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices.
Amyotroph Lateral Scler Frontotemporal Degener
May 2022
Article Synopsis
- A study was conducted to assess genetic testing practices at ALS clinics across Canada, using surveys and interviews with clinicians from 27 clinics.
- Results showed that 93% of clinics regularly test for familial ALS, but only 33% do so for sporadic ALS, highlighting significant barriers such as treatment impact perception, approval challenges, and inadequate genetic counseling access.
- Findings indicate that genetic testing access varies widely, with an average wait time of 10 months to see a genetic counselor, and calls for improved testing practices to ensure equitable healthcare delivery for ALS patients.
Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive disease caused by mutations in the TTR gene leading to multisystem organ dysfunction. Pathogenic TTR aggregation, misfolding, and fibrillization lead to deposition of amyloid in multiple body organs and frequently involve the peripheral nerve system and the heart. Common neurologic manifestations include: sensorimotor polyneuropathy (PN), autonomic neuropathy, small-fiber PN, and carpal tunnel syndrome.
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