Barraquer Ferré and De Gispert, 1936: detection of the Majorca focus of familial amyloid polyneuropathy
S. Giménez-Roldán, A. Barceló Rosselló
Neurosciences and History 2023;11(2):56-64
Type of article: ORIGINAL
AUTHORS
S. Giménez-Roldán1, A. Barceló Rosselló2
1Former head of the Department of Neurology. Hospital General Universitario Gregorio Marañón, Madrid, Spain.
2Former head of the Department of Neurology. Hospital Universitario Son Dureta, Palma de Mallorca, Spain.
ABSTRACT
The Majorca focus of familial amyloid polyneuropathy (FAP) is the fifth largest in terms of prevalence, after the foci in Portugal, Japan, Brazil, and Sweden. It is generally accepted to have been recognised in 1976 by the distinguished Majorcan internist Munar-Qués. However, in 1936, Barraquer Ferré and De Gispert Cruz, two experienced Catalan neurologists, examined three siblings of Majorcan origin in Barcelona, who presented clinical signs consistent with FAP. Over two generations, 13 members of their family had developed a similar disease. They published their findings in the journal Deutsche Zeitschrift für Nervenheilkunde as a case of lumbosacral syringomyelia, an inaccurate but common term at the time for deficits in temperature and pain sensation in the legs, often associated with painless foot ulcers. The unfortunate management of the spinal cord specimen obtained in the autopsy study of the youngest sister revealed a cystic formation in the lower half, whereas the upper half had disappeared, probably due to putrefaction. Barraquer Ferré and De Gispert Cruz were the first authors worldwide to describe the clinical picture of FAP, its autosomal dominant inheritance pattern, and its relationship with the island of Majorca. Their article inspired the research of Munar-Qués, who played a crucial role in our understanding of the disease.
KEYWORDS
Ulcerative-mutilating acropathy, Barraquer Ferré, De Gispert Cruz, plantar mal perforant, Majorca, Munar-Qués, familial amyloid polyneuropathy, lumbosacral syringomyelia
Neurosciences and History 2023;11(2):56-64
 |
||
|
