{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:27:51Z","timestamp":1747193271041,"version":"3.40.5"},"reference-count":60,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and presents during childhood or puberty with a complex clinical phenotype encompassing learning difficulties, ataxia, peripheral neuropathy, amyotrophy, and mental retardation. We hereby present the case of a 30-year-old female patient with complex autosomal recessive HSP with thinning of the corpus callosum (TCC) and dementia that was compound heterozygous with two novel mutations in the &lt;i&gt;SPG11&lt;\/i&gt; gene. Sequence analysis of the &lt;i&gt;SPG11 &lt;\/i&gt;gene revealed two novel mutations in a compound heterozygous state in the index patient (c.2431C&gt;T\/p.Gln811Ter and c.6755_6756insT\/p.Glu2252Aspfs*88). MRI showed abnormal TCC, white matter (WM) hyperintensities periventricularly, and the \u2018ears of the lynx' sign. Diffusion tensor imaging showed a mild-to-moderate decrease in fractional anisotropy and an increase in mean diffusivity in WM compared to age-matched controls, while magnetic resonance spectroscopy showed abnormal findings in affected WM with a decrease in N-acetyl-aspartate in WM regions of interest. This is the first SPG11 kindred from the Greek population to be reported in the medical literature.<\/jats:p>","DOI":"10.1159\/000444715","type":"journal-article","created":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T21:04:30Z","timestamp":1466456670000},"page":"373-381","source":"Crossref","is-referenced-by-count":9,"title":["Novel Compound Heterozygous &lt;b&gt;&lt;i&gt;Spatacsin&lt;\/i&gt;&lt;\/b&gt; Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia"],"prefix":"10.1159","volume":"16","author":[{"given":"Matthew 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