Neurological manifestations of AGel amyloidosis (Meretoja's Syndrome) in a German family;Neurologische Manifestationen der AGel-Amyloidose (Meretoja-Syndrom) bei einer deutschen Familie

Fortschritte der Neurologie Psychiatrie

Volumn 79, Issue 4, 2011, Pages 238-241

  Burmann J ^a   Fassbender K ^a   Henn, W ^a   Lohse, P ^b   Holzhoffer, C ^a   Dillmann, U ^a  

^a SAARLAND UNIVERSITY   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

AGel amyloidosis; facial palsy; gelsolin; hereditary amyloidosis; polyneuropathy

Indexed keywords

GELSOLIN;

AGEL AMYLOIDOSIS; AMYLOIDOSIS; ARTICLE; CHROMOSOME 9Q; CORNEA DYSTROPHY; CUTIS LAXA; EXON; FACIAL NERVE PARALYSIS; GENE MUTATION; GERMANY; HUMAN; MYOKYMIA;

AGED; AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL; CHROMOSOMES, HUMAN, PAIR 9; CORNEAL DYSTROPHIES, HEREDITARY; CUTIS LAXA; ELECTRODIAGNOSIS; EXONS; FACIAL PARALYSIS; FAMILY; FEMALE; FINLAND; GELSOLIN; HUMANS; MALE; MIDDLE AGED; MOVEMENT DISORDERS; MUTATION; NERVOUS SYSTEM DISEASES;

EID: 79953674225     PISSN: 07204299     EISSN: 14393522     Source Type: Journal    
DOI: 10.1055/s-0029-1246083     Document Type: Article

References (27)

1. Röcken C, Ernst J, Hund E et al. Interdisziplinäre Leitlinie zur Diagnostik und Therapie der extrazerebralen Amyloidosen. Dtsch Med Wochenschr 2006 131 45-66
2. Cohen A S., Calkins E. Electron microscopic observations on a fibrous component in amyloid of diverse origins. Nature 1959 183 1202-1203
3. Kazatchkine M D., Husby G, Araki S et al. Nomenclature of amyloid and amyloidosis - WHO-IUIS nomenclature sub-committee. Bull World Health Organ 1993 71 105-108
4. Adams D. Hereditary and acquired amyloid neuropathies. JNeurol 2001 248 647-657 (Pubitemid 32695860)
5. Ewing D J. Noninvasive evaluation of heart rate: the time domain. In Low P A. Hrsg Clinical Autonomic Disorders. Boston Little 1993 297-314
6. Baron R, Wasner G. Herzfrequenzvariabilität. In Buchner H Noth J Hrsg Evozierte Potentiale, Neurovegetative Diagnostik, Okulographie. Stuttgart, New York Thieme 2005 176-179
7. Haensch C A. Blutdruckregulation. Evozierte Potentiale, Neurovegetative Diagnostik, Okulographie. Stuttgart, New York Thieme 2005 180-188
8. Diener H C., Dichgans J. Applications and uses of static and dynamic measurement of posture (posturography). Fortschr Neurol Psychiatr 1988 56 249-258
9. Heide W, Koenig E, Trillenberg P et al. Electrooculography: technical standards and applications (The International Federation of Clinical Neurophysiology). Electroencephal Clin Neurophysiol 1999 52 (Suppl) 223-240
10. 654→A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. Genomics 1992 13 237-239
11. Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms: a previously unrecognized heritable syndrom. Ann Clin Res 1969 1 314-324
12. Stewart H S., Parveen R, Ridgway A E. et al. Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. Br J Ophthalmol 2000 84 390-394 (Pubitemid 30255488)
13. Darras B T., Adelman L S., Mora J S. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. Neurology 1986 36 432-435 (Pubitemid 16125174)
14. Huerva V, Velasco A, Sanchez M C. et al. Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. Eur J Ophthalmol 2007 17 424-429 (Pubitemid 47056302)
15. Boysen G, Galassi G, Kamieniecka Z et al. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. JNeurol Neurosurg Psychiat 1979 42 1020-1030 (Pubitemid 10236383)
16. Lüttmann R J., Kiefer R, Husstedt I W. et al. Charakterisierung einer deutschen Familie mit Hereditärer Amyloid-Neuropathie vom Finnischen Typ (IV). Akt Neurol 2004 31
17. Chapelle A de la, Tolvanen R, Boysen G et al. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution at residue 187. Nat Genet 1992 2 157-160
18. Spinardi L, Witke W. Gelsolin and diseases. Subcell Biochem 2007 45 55-69
19. Kwiatkowski D J., Mehl R, Izumo S et al. Muscle is the major source of plasma gelsolin. JBiol Chem 1988 263 8239-8243
20. Kiuru S. Familial amyloidosis of the Finnish type (FAF): a clinical study of 30 patients. Acta Neurol Scand 1992 86 346-353
21. Kiuru S, Seppäläinen A M. Neuropathy in familial amyloidosis, Finnish type (FAF): electrophysiological studies. Muscle Nerve 1994 17 299-304 (Pubitemid 24080209)
22. Kiuru S. Gelsolin-related amyloidoses, Finnish type (FAF), and its variants found worldwide. A review. Amyloid 1998 5 55-66 (Pubitemid 128691218)
23. Kiuru S, Matikainen E, Kurpari M et al. Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). JNeurol Sci 1994 126 40-48 (Pubitemid 24305257)
24. Kiuru-Enari S, Keski-Oja J, Haltia M. Cutis laxa in hereditary gelsolin amyloidosis. Br J Dermatol 2005 152 250-257 (Pubitemid 40343594)
25. Meretoja J. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet 1973 4 173-185
26. Kiuru S, Salonen O, Haltia M. Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol 1999 45 305-311 (Pubitemid 29120034)
27. Shoja M M., Ardalan M R., Tubbs R S. et al. Outcome in renal transplant in hereditary gelsolin amyloidosis. Am J Med Sci 2009 337 370-372