Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions-Reference-Cited by-同舟云学术

Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions

Published:2023-05-04 Issue:4 Volume:30 Page:357-363
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Mendelson Lisa¹²,Prokaeva Tatiana¹³,Lau K. H. Vincent¹⁴,Sanchorawala Vaishali¹²^ORCID,McCausland Kristen⁵,Spencer Brian¹,Dasari Surendra⁶,McPhail Ellen D.⁷,Kaku Michelle C.¹⁴

Affiliation:

1. Amyloidosis Center, Boston University School of Medicine, Boston, MA, USA

2. Section of Hematology and Oncology, Department of Medicine, Boston Medical Center, Boston, MA, USA

3. Department of Pathology and Laboratory Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA

4. Neurology Department, Boston Medical Center, Boston, MA, USA

5. QualityMetric Incorporated, LLC, Boston, MA, USA

6. Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA

7. Department of Laboratory of Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

Funder

Wildflower Foundation

Boston University Amyloid Research Fund

Publisher

Informa UK Limited

Subject

Internal Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506129.2023.2204999

Reference31 articles.

1. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome;Meretoja J.;Ann Clin Res,1969

2. Hereditary gelsolin amyloidosis

4. Familial systemic amyloidosis associated with bilateral sensorineural hearing loss and bilateral facial palsies

5. Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF)