Abstract
Kjellin syndrome is a hereditary neuro-ophthalmologic syndrome characterized by spastic paraplegia, dementia, dysarthria, corpus callosum atrophy and dystrophy of the posterior pole of the ocular fundus. This disease was first described in Sweden by Kjellin in 1959 [1]. However, its features had already been very well detailed earlier in particular by Franceschetti and Bar in two large families [2, 3].
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Kjellin KG, Stibler H. Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. J Neurol Sci. 1975;25:65–74.
Franceschetti A, Klein D. Uber das Vorkommen von hereditärer juveniler Maculadegeneration (type Stargardt) bei Zwei Geschwisterpaaren der Friedreich Tippe ‘Glaser’ mit kasuistischen Beitragen von retinitis pigmentosa und dominanter labyrintharer Schwerhörigkeit. Arch Julius Klaus-Stiftung für Vererbungsforchung. 1941;16:469.
Louis-Bar DPPG. Sur une paraplégie spasmodique avec dégenerescence maculaire chez deux frères. Ophthalmologica. 1945;109:32–43.
Farmer SG, Longstreth Jr WT, Kalina RE, Todorov AB. Fleck retina in Kjellin’s syndrome. Am J Ophthalmol. 1985;99:45–50.
Hanein S, Martin E, Boukhris A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008;82:992–1002.
Liao SS, Shen L, Du J, et al. Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. J Neurol Sci. 2008;275:92–9.
De Laey JJ. Flecked retina disorders. Bull Soc Belge Ophtalmol. 1993;249:11–22.
Frisch IB, Haag P, Steffen H, et al. Kjellin’s syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings. Ophthalmology. 2002;109:1484–91.
Ferriby D, Stojkovic T, De Seze J, et al. Kjellin syndrome. Rev Neurol (Paris). 2001;157:80–3.
Sachdev A, Proudlock FA, Abbott R, Gottlob I. Kjellin syndrome: first case with retinal changes in carriers. Neurology. 2005;65:1110.
Seidel K, De Vos R, Derksen L, Bauer P, Riess O, den Dunnen W, Deller T, Hageman G, Rüb U. Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia 5HSP. Ann Anat. 2009;191:203–11.
Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet. 2001;108:346–55.
Hehr U, Bauer P, Winner B, et al. Long-term course and mutational spectrum of spasticin-linked spastic paraplegia. Ann Neurol. 2007;62:656–65.
Hughes CA, Byrne PC, Webb S, et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 4q. Neurology. 2001;56:1230–3.
Goizet C, Boukhris A, Maltete D, et al. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology. 2009;73:1111–9.
Stevanin G, Azzedine H, Denora D, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008;131:772–84.
Stevanin G, Santorelli FM, Azzedine H, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007;39:366–72.
Orlen H, Melberg A, Raininko R, et al. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:984–92.
Puech B, Lacour A, Stevanin G, et al. Kjellin syndrome: long term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene. Ophthalmology. 2011;1118:564–77.
Schule R, Schlipf N, Synofzik M, et al. Frequency and phenotype of SPG11 and SPG15 in complicated spastic paraplegia. J Neurol Neurosurg Psychiatry. 2009;80:1402–4.
Stevanin G, Dürr A, Brice A. Spastic paraplegia 11. 2008 Mar 27 [Updated 31 Jan 2013]. In: Pagon RA, Adam MP, Bird TD, et al, editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2014. Bookshelf ID: NBK1210PMID: 20301389. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1210/
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Puech, B., De Laey, JJ., Stevanin, G. (2014). Spastic Paraplegia and Retinal Degeneration: Kjellin Syndrome. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_31
Download citation
DOI: https://doi.org/10.1007/978-3-540-69466-3_31
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-69464-9
Online ISBN: 978-3-540-69466-3
eBook Packages: MedicineMedicine (R0)