title: Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis.
abstract: BACKGROUND
  Hereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice dystrophy (type 2), progressive bilateral facial paralysis, and cutis laxa. Detailed information on facial paralysis in GA and the extent of cranial nerve injury is lacking.
  
  
  METHODS
  29 GA patients undergoing facial corrective surgery were interviewed, examined, and studied electroneurophysiologically.
  
  
  RESULTS
  All showed dysfunction of facial (VII) and trigeminal (V) nerves, two-thirds of oculomotor (III) and hypoglossal (XII) nerves, and half of vestibulocochlear (acoustic) (VIII) nerve. Clinical involvement of frontal, zygomatic, and buccal facial nerve branches was seen in 97%, 83%, and 52% of patients, respectively. Electromyography showed marked motor unit potential loss in facial musculature.
  
  
  CONCLUSIONS
  Cranial nerve involvement in GA is more widespread than previously described, and correlates with age, severity of facial paralysis, and electromyographic findings. We describe a grading method for bilateral facial paralysis in GA, which is essential for evaluation of disease progression and the need for treatment.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Töölö Hospital of Helsinki University Central Hospital, P.O. Box 266, 00029 HUS, Finland.
authors.forename: Tiia
authors.initials: T
authors.lastname: Pihlamaa
authors.affiliation: Department of Clinical Neurophysiology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Tapani
authors.initials: T
authors.lastname: Salmi
authors.affiliation: Department of Plastic and Reconstructive Surgery, Töölö Hospital of Helsinki University Central Hospital, P.O. Box 266, 00029 HUS, Finland.
authors.forename: Sinikka
authors.initials: S
authors.lastname: Suominen
authors.affiliation: Department of Neurology, Helsinki University Central Hospital, Finland.
authors.forename: Sari
authors.initials: S
authors.lastname: Kiuru-Enari
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000503:physiopathology*; D000686:Amyloidosis / Q000150:complications / Q000503:physiopathology*; D003317:Corneal Dystrophies, Hereditary / Q000150:complications / Q000503:physiopathology*; D003389:Cranial Nerve Diseases / Q000209:etiology / Q000503:physiopathology*; D003483:Cutis Laxa / Q000209:etiology; D004576:Electromyography; D005152:Facial Muscles / Q000503:physiopathology*; D005155:Facial Nerve Diseases / Q000209:etiology / Q000503:physiopathology; D005158:Facial Paralysis / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D020437:Hypoglossal Nerve Diseases / Q000209:etiology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D015840:Oculomotor Nerve Diseases / Q000209:etiology / Q000503:physiopathology; D020433:Trigeminal Nerve Diseases / Q000209:etiology / Q000503:physiopathology; D000160:Vestibulocochlear Nerve Diseases / Q000209:etiology / Q000503:physiopathology
keywords: amyloidosis; bilateral facial paresis; cranial neuropathy; facial paresis grading; gelsolin