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LETTER TO EDITOR
Year : 2013  |  Volume : 61  |  Issue : 6  |  Page : 673-675

A new Indian family affected by gelsolin amyloidosis


1 Department of Neurology, Lourdes Hospital, Kochi, Kerala, India
2 Department of Neuropathology, NIMHANS, Bengaluru, Karnataka, India

Date of Submission18-Nov-2013
Date of Decision27-Nov-2013
Date of Acceptance21-Dec-2013
Date of Web Publication20-Jan-2014

Correspondence Address:
Boby Varkey Maramattom
Department of Neurology, Lourdes Hospital, Kochi, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.125372

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How to cite this article:
Maramattom BV, Chickabasaviah YT. A new Indian family affected by gelsolin amyloidosis. Neurol India 2013;61:673-5

How to cite this URL:
Maramattom BV, Chickabasaviah YT. A new Indian family affected by gelsolin amyloidosis. Neurol India [serial online] 2013 [cited 2019 Sep 18];61:673-5. Available from: http://www.neurologyindia.com/text.asp?2013/61/6/673/125372


Sir,

Gelsolin amyloidos (GA), familial amyloid polyneuropathy type IV, is a rare familial amyloidosis of the Finnish type described by Meretoja. [1] This report describes the first Indian family of GA.

A 54-year-old man presented with facial twitching of 1-2 years duration. Examination revealed bifacial paresis (lower > upper face), cutis laxa (CL) of face and trunk, twitching of lower facial muscles and dysarthria [Figure 1]. Seven family members had a similar phenotype [Video 1] [Figure 2]. Most of them had developed the facial changes in their fifth decades. Slit lamp examination showed corneal Lattice dystrophy type II in the patient and his daughter [Figure 3]. Magnetic resonance imaging of brain and spine were normal. Superficial radial nerve biopsies showed multifocal amyloid deposits in the perineurium > endoneurium > epineurial blood vessel wall of the nerve. The endoneurial deposits were mainly perivascular [Figure 4]. Genetic testing was unaffordable.




GA is a rare autosomal dominant disease. Amyloid in these patients is formed from the protein product of the gelsolin gene. Gelsolin is a cytosolic protein associated with actin with both intracellular and extracellular functions. [2] A mutation in the gelsolin coding area (q32-34) of chromosome 9 produces an abnormal gelsolin fragment that leads to self-sustaining amyloidogenesis and systemic deposition with disruption of basement membranes in various structures. [3],[4],[5]
Figure 1: Photographs of Proband (Panel a) and his younger brother (8th sibling) (Panel b) show saggy facies and dermatochalasis with smooth brows. Panel c shows cutis laxa. Panel d shows the 'plucked chicken appearance of the skin over the neck'

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Figure 2: Genogram. Index patient is denoted by a yellow square. Other affected individuals are denoted by a shaded icon

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Figure 3: Panel A - slit lamp photograph of the cornea shows corneal anterior stromal dystrophy; both lattice and granular deposits suggestive of Lattice dystrophy type II. Panel B - slit lamp photograph of the daughter's cornea shows amyloid deposits consistent with Lattice dystrophy. Panel C - fundus photography shows normal optic discs with mild superior retinal nerve fiber defects

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Figure 4: Superficial radial nerve biopsy. (a) Large eosinophilic amyloid deposits in the perineurium of a small nerve funicle (asterisk). (b) Deposit exhibits apple green birefringence under the polarizer. (c) An epineurial vessel (arrow) and perineurium (arrowhead) show amyloid deposits. (a: H and E, original magnification ×160; b and c: Congo red, original magnification ×160)

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GA starts in the third decade of life with corneal lattice dystrophy. [6] Upper facial paresis followed by lower facial paresis is then seen. Lower cranial nerves including the IX, X and XII nerves can be involved. Peripheral and autonomic nerves are mildly affected. [3] GA deposition in the basement membrane of the skin produces CL, pruritis, hypohidrosis, easy bruisability, dermatochalasia and macroglossia. [7] Late stage systemic involvement leads to renal amyloidosis, cardiac conduction abnormalities or cerebral amyloid angiopathy. [3],[8] Histopathological examination reveals amyloid deposition in the perineurial sheaths and vessel walls especially in the nerve roots. [9] Amyloid is found in the cornea, conjunctiva, sclera, nerves and vessels in the eye. Mutation analysis is definitive; however it is expensive. In conclusion, we have described the first family of GA from India.

 
 » References Top

1.Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann Clin Res 1969;1:314-24.  Back to cited text no. 1
[PUBMED]    
2.Sun HQ, Yamamoto M, Mejillano M, Yin HL. Gelsolin, a multifunctional actin regulatory protein. J Biol Chem 1999;274:33179-82.  Back to cited text no. 2
[PUBMED]    
3.Chen CD, Huff ME, Matteson J, Page L, Phillips R, Kelly JW, et al. Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca (2+) stabilization. EMBO J 2001;20:6277-87.  Back to cited text no. 3
[PUBMED]    
4.Solomon JP, Page LJ, Balch WE, Kelly JW. Gelsolin amyloidosis: Genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Crit Rev Biochem Mol Biol 2012;47:282-96.  Back to cited text no. 4
[PUBMED]    
5.Solomon JP, Yonemoto IT, Murray AN, Price JL, Powers ET, Balch WE, et al. The 8 and 5 kDa fragments of plasma gelsolin form amyloid fibrils by a nucleated polymerization mechanism, while the 68 kDa fragment is not amyloidogenic. Biochemistry 2009;48:11370-80.  Back to cited text no. 5
[PUBMED]    
6.Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black GC. Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. Br J Ophthalmol 2000;84:390-4.  Back to cited text no. 6
[PUBMED]    
7.Kiuru-Enari S, Keski-Oja J, Haltia M. Cutis laxa in hereditary gelsolin amyloidosis. Br J Dermatol 2005;152:250-7.  Back to cited text no. 7
[PUBMED]    
8.Chastan N, Baert-Desurmont S, Saugier-Veber P, Dérumeaux G, Cabot A, Frébourg T, et al. Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. Muscle Nerve 2006;33:113-9.  Back to cited text no. 8
    
9.Kiuru-Enari S, Somer H, Seppäläinen AM, Notkola IL, Haltia M. Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol 2002;61:565-71.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

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