Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis

Pihlamaa, Tiia; Salmi, Tapani; Suominen, Sinikka; Kiuru-Enari, Sari

doi:10.1002/mus.24922

Cited by 15 publications

(21 citation statements)

References 46 publications

(133 reference statements)

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“…[15][16][17] Omitting hereditary amyloidosis, particularly type IV which presents with isolated bulbar motor neuropathy, from this differential diagnosis may contribute to under-diagnosis or misdiagnosis of the condition. 18 The significance of LCD seems to have been overlooked in this family. Corneal dystrophies are a common hereditary corneal disease and are typically distinguished by the location and formation of the opacities.…”

Section: Discussionmentioning

confidence: 94%

“…These patients were shown to have the common TTR form of amyloidosis, thus it is surprising that neither hereditary amyloidosis type IV (gelsolin) nor transthyretin‐related amyloidosis is not listed in the differential diagnosis of ALS or bulbar motor neuron disease in many major textbooks or frequently used online tools . Omitting hereditary amyloidosis, particularly type IV which presents with isolated bulbar motor neuropathy, from this differential diagnosis may contribute to under‐diagnosis or misdiagnosis of the condition …”

Section: Discussionmentioning

confidence: 99%

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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

et al. 2017

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Introduction Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimicks motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS. Methods We studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome sequencing. Results Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV. Conclusions This American family presented with progressive bulbar neuropathy due to a gelsolin mutation not found in Finland. Hereditary amyloidosis type IV presents with bulbar motor neuropathy and not with peripheral neuropathy as occurs with common forms of amyloidosis. This report demonstrates the power of exome sequencing to determine the cause of rare hereditary diseases with incomplete or atypical phenotypes.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

et al. 2017

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“… Facial nerve paresis was clinically graded on a scale 0–8, based on the amount of involved facial nerve branches, and degree of lost function in each facial area . …”

Section: Methodsmentioning

confidence: 99%

Gelsolin amyloid angiopathy causes severe disruption of the arterial wall

Koskelainen

Pihlamaa

Suominen

et al. 2016

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Hereditary gelsolin amyloidosis (HGA) is a dominantly inherited systemic disease reported worldwide. HGA is characterized by ophthalmological, neurological, and dermatological manifestations. AGel amyloid accumulates at basal lamina of epithelial and muscle cells, thus amyloid angiopathy is encountered in nearly every organ. HGA patients have cardiovascular, hemorrhagic, and potentially vascularly induced neurological problems. To clarify pathomechanisms of AGel angiopathy, we performed histological, immunohistochemical, and electron microscopic analyses on facial temporal artery branches from 8 HGA patients and 13 control subjects. We demonstrate major pathological changes in arteries: disruption of the tunica media, disorganization of vascular smooth muscle cells, and accumulation of AGel fibrils in arterial walls, where they associate with the lamina elastica interna, which becomes fragmented and diminished. We also provide evidence of abnormal accumulation and localization of collagen types I and III and an increase of collagen type I degradation product in the tunica media. Vascular smooth muscle cells appear to be morphologically and semi-quantitatively normal, only their basal lamina is often thickened. In conclusion, angiopathy in HGA results in severe disruption of arterial walls, characterized by prominent AGel deposition, collagen derangement and severe elastolysis, and it may be responsible for several, particularly hemorrhagic, disease manifestations in HGA.

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“…Bilateral facial palsy is the most frequent neurological manifestation of HGA, but the disease is generally not taken into consideration in its differential diagnosis (Carswell et al, ; Chaucer et al, ) (Table ). According to the literature, facial neuropathy in HGA is typically bilateral and progressive, with initial involvement of the upper and later spread to the lower nerve branches (Pihlamaa et al, ) . However, in our family this pattern did not occur.…”

Section: Discussionmentioning

confidence: 99%

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

Sagnelli¹,

Piscosquito²,

Bella

et al. 2017

J Peripheral Nervous Sys

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We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother. Gelsolin-gene sequencing revealed the heterozygous c.640G>A mutation (p.Asp187Asn) in the proband, his mother and aunt and also in three apparently asymptomatic relatives. The majority of HGA patients come from Finland, although several cases have been reported from other countries. HGA should be considered in the differential diagnosis of progressive or recurrent bilateral facial neuropathy.

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Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis

Cited by 15 publications

References 46 publications

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

Gelsolin amyloid angiopathy causes severe disruption of the arterial wall

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

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