Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

Darras, Basil T.; Adelman, Lester S.; Mora, Jesús; Bodziner, Richard A.; Munsat, Theodore L.

doi:10.1212/wnl.36.3.432

Cited by 45 publications

(12 citation statements)

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“…It can be concluded that in this form of AGel amyloidosis, dementia does not appear to be prevalent. Similar was the finding also in the previous study of 31 cases (Kiuru et al, 1995), although dementia has been reported in single patients (Kiuru, Salonen & Haltia, 1999; Darras et al, 1986; Haltia et al, 1991). …”

Section: Discussionsupporting

confidence: 92%

“…Histological findings revealed alterations of the white matter and involvement of spinal and cerebral blood vessels and meninges, and slight to moderate diffuse loss of myelin (Kiuru, Salonen & Haltia, 1999). Dementia is reported in single cases (Kiuru, Salonen & Haltia, 1999; Darras et al, 1986; Haltia et al, 1991), potentially related to associated CNS diseases. In the study of 31 AGel patients by Kiuru et al (1995) minor signs of CNS involvement were found in the MRI revealing significantly more frequent high intensity lesions in subcortical and deep white matter, periventricular regions and/or in the pons.…”

Section: Introductionmentioning

confidence: 99%

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Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)

Kantanen

Kiuru-Enari

Salonen

et al. 2014

PeerJ

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Hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant form of systemic amyloidosis caused by a c.640G>A or c.640G>T mutation in the gene coding for gelsolin. Principal clinical manifestations include corneal lattice dystrophy, cranial neuropathy and cutis laxa with vascular fragility. Signs of minor CNS involvement have also been observed, possibly related to cerebral amyloid angiopathy (CAA). To investigate further if AGel amyloidosis carries a risk for a specific neuropsychological or psychiatric symptomatology we studied 35 AGel patients and 29 control subjects. Neuropsychological tests showed abnormalities in visuocontructional and -spatial performance in AGel patients, also some indication of problems in processing efficacy was found. At psychiatric evaluation the patient group showed more psychiatric symptomatology, mainly depression. In brain MRI, available in 16 patients and 14 controls, we found microhemorrhages or microcalcifications only in the patient group, although the number of findings was small. Our study shows that AGel amyloidosis can be associated with visuoconstructional problems and depression, but severe neuropsychiatric involvement is not characteristic. The gelsolin mutation may even induce cerebrovascular fragility, but further epidemiological and histopathological as well as longitudinal follow-up studies are needed to clarify gelsolin-related vascular pathology and its clinical consequences.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)

Kantanen

Kiuru-Enari

Salonen

et al. 2014

PeerJ

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“…The estimated number of living patients in Finland is about 400-600. Some cases with identical clinical findings have also been reported in the Netherlands, Czechoslovakia, Denmark, the United States, and Japan (Klaus et al, 1959;Winkelman et al, 1971;Boysen et al, 1979;Sack et al, 1981;Purcel et al, 1983;Darras et al, 1986;Sunada et al, 1993).…”

Section: Introductionmentioning

confidence: 77%

Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan

et al. 1995

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Familial amyloidosis, Finnish type (FAF) (gelsolin-related amyloidosis) is an autosomal dominant form of systemic amyloidosis characterized by corneal lattice dystrophy and peripheral polyneuropathy. The accumulating protein in FAF consists of fragments of gelsolin, an actin-modulating protein. The gelsolin mutation G654A has been found in both Finnish and Japanese patients. To study the origin of the gelsolin mutation in these patients we performed haplotype analysis in 10 Finnish and 2 Japanese FAF families. Poymorphic DNA markers GSN, D9S103, AFMa061xd9, and AFMa139xb9 revealed a uniform disease haplotype in all the disease-associated chromosomes of the Finnish FAF families, which was different from the one observed in the Japanese families. The present results and the previously detected gelsolin mutation G654T in Czech and Danish FAF patients suggest that nucleotide 654 may represent a mutation hot spot in the gelsolin gene. The DNA markers studied here will be useful in future genealogical analyses of FAF.

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“…12 Dysphagia and dysarthria due to bulbar palsy may occur. 12,20 Ataxia has been reported in some patients 3,12 and mild, predominantly sensory, peripheral neuropathy 2,8 as well a carpal tunnel syndrome have also been described. 8,12 The autonomic nervous system is sometimes slightly affected.…”

mentioning

confidence: 99%

Gelsolin‐related familial amyloidosis, Finnish type, in a Portuguese family: Clinical and neurophysiological studies

et al. 2003

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We report a Portuguese family with familial amyloid polyneuropathy related to gelsolin. There were no known Finnish ancestors, but the same mutation as described in Finnish patients (G654A) was carried. Clinical and neurophysiological investigations were performed in four patients. Corneal lattice dystrophy affected all four patients; an axonal lesion of the facial nerve occurred in three patients; visual tract involvement was documented in one case; and corticospinal and posterior column dysfunction was present in one patient. Polarizing microscopy of skin and muscle samples demonstrated amyloid deposits in two patients; anti-gelsolin immunohistochemistry was positive for amyloidogenic gelsolin. The Finnish mutation of gelsolin protein (G654A) was detected in five family members. The utility of neurophysiological testing in the evaluation and follow-up of this type of amyloidosis is discussed.

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Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy

Cited by 45 publications

References 0 publications

Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)

Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)

Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan

Gelsolin‐related familial amyloidosis, Finnish type, in a Portuguese family: Clinical and neurophysiological studies

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