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Article

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Oct 2009

Orlén Hanna, Melberg Atle, Raininko Raili, Kumlien Eva, Entesarian Miriam, Söderberg Per, Påhlman Magnus, Darin Niklas, Kyllerman Mårten, Holmberg Eva, Engler Henry, Eriksson Urban, Dahl Niklas

Abstract excerpt

Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is genetically heterogenous and approximately 35% of patients carry mutations in either of the SPG11 or SPG15 genes. Disease onset is during the first three decades of life with spastic paraplegia and mental impairment. Peripheral neuropathy and amyotrophy may occur. Kjellin syndrome is characterized by central retinal...

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Identifiers

PMID: 19194956
DOI: 10.1002/ajmg.b.30928

Genes

SPG11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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