Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation.
Hereditary amyloidosis of the Finnish type (HAF, or familial amyloid polyneuropathy type IV) is an autosomal dominant disease that has been described most commonly in the Finnish population but has also been found in some other countries. Herein we report the first German family whose members suffer from this condition. There are no known Finnish ancestors. We performed clinical and electrophysiological examinations in 22 members of this family. All symptomatic family members suffered from facial palsy, and most of them had peripheral neuropathy. One patient had confirmed corneal lattice dystrophy. Additional symptoms were hypoglossal nerve involvement in 5 patients and oculomotor nerve palsy in 1 patient. The lips of all older patients appeared thickened. The causative G654A mutation in the gelsolin gene was found in all affected family members.
Lüttmann
Rainer J
RJ
Department of Neurology, University of Münster, Münster, Germany.
Teismann
Inga
I
Husstedt
Ingo W
IW
Ringelstein
E Bernd
EB
Kuhlenbäumer
Gregor
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology; D003389:Cranial Nerve Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D003391:Cranial Nerves / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004185:Disability Evaluation; D004568:Electrodiagnosis; D005155:Facial Nerve Diseases / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D005387:Finland; D018260:Gelsolin / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D005858:Germany; D006801:Humans; D020437:Hypoglossal Nerve Diseases / Q000378:metabolism / Q000503:physiopathology; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology; D010525:Peripheral Nerves / Q000378:metabolism / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D055815:Young Adult
D018260:Gelsolin; D005819:Genetic Markers