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Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
The most frequent cause of autosomal recessive HSP in Europe is SPG11 caused by mutations in the gene KIAA1840 encoding the protein spatacsin. Onset occurs before the age of 25 years and the spastic paraparesis is complicated by cognitive impairment, dysarthria, distal amyotrophy and a thin corpus callosum seen by imaging. Complicated HSP in association with a thin corpus callosum may also be caused by mutations in the gene ZFYVE26 (SPG15/Kjellin syndrome) encoding the protein spastizin. Mutations in the SPG7 gene encoding the protein paraplegin result in either a pure HSP phenotype or a complicated HSP phenotype with optic atrophy and cerebellar atrophy. Of note, SPG7 has been reported to account for 7 per cent of adult onset ‘sporadic’ HSP cases in one study.
Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers
Published in Expert Review of Molecular Diagnostics, 2022
Grainne Mulkerrin, Marcondes C. França, Jasmin Lope, Ee Ling Tan, Peter Bede
Over 100 loci/88 genes have been implicated in the pathogenesis of HSP to date [3]. Inheritance can be autosomal dominant (AD), autosomal recessive (AR), X-linked, mitochondrial, or sporadic [4]. The genetic classification for HSP is based on sequential numbering of genes, using a spastic paraplegia gene (SPG) prefix. The most common genotypes seen in clinical practice are SPG4 and SPG11. SPG4 is a pHSP that exhibits AD-inheritance of the spastin (SPAST) gene and accounts for up to 60% of all HSP cases. SPG11 is the most prevalent AR-inherited HSP accounting for approximately 8% of all HSP cases and categorized as a cHSP with additional features such as cognitive impairment, peripheral neuropathy, ataxia, and urinary symptoms. SPG3A is a clinically pure HSP phenotype and the second most common AD-inherited HSP, accounting for 5–10% of AD HSPs that are negative for SPAST mutation. SPG15 is inherited in an AR manner and phenotypically similar to SPG11. Finally, SPG7 that tends to manifest in the fourth decade with spastic paraparesis and cerebellar signs, is a cHSP inherited in an AR manner [5].
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia
Published in International Journal of Neuroscience, 2018
Juan Du, Ya-Cen Hu, Bei-Sha Tang, Hong Jiang, Lu Shen
SPG15 mutations are responsible for 12% of ARHSP–TCC and 4% of all ARHSP, and were supposed to be the second most common cause of HSP–TCC in western countries. SPG15 had almost indistinguishable clinical phenotypes such as cognitive impairment, pigmentary maculopathy (Kjellin syndrome), peripheral axonal neuropathy, TCC and cerebellar atrophy. SPG5 with a frequency of up to 10% of ARHSP families in previous linkage studies might be slowly progressive pure form or complex ARHSP with optical atrophy, cerebellar signs, periventricular and subcortical white matter lesions at brain MRI. SPG7 accounts for less than 5% of ARHSP, and it usually has pure or complex forms of HSP mainly associated with cerebellar signs and optic atrophy. Considering the clinically and genetically heterogeneous of HSP, both the pure (10/36) and complicated (26/36) cases with peripheral neuropathy (13/36), mental retardation (14/36), sphincter disturbance (6/36), optic atrophy (4/36), cataract (1/36), cerebellar ataxia (15/36), TCC (14/29), WMA (7/29), cerebral atrophy (8/29) and cerebellar atrophy (6/29) were included in our study, and no SPG15, SPG5 or SPG7 mutation were identified; therefore, we suspected that these types of ARHSP may be rare in Chinese Han people.
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families
Published in Journal of Neurogenetics, 2021
Mahdieh Pashaei, Atefeh Davarzani, Reza Hajati, Babak Zamani, Shahriar Nafissi, Farzaneh Larti, Yalda Nilipour, Mohammad Rohani, Afagh Alavi
AAO of SPG15 patients are variable (3–38 years) and a wide variety of intra and interfamilial phenotypic expressions are observed among SPG15 patients (Hanein et al., 2008; Schüle, Schlipf, et al., 2009; Schüle & Schöls, 2011). AAO of the proband 113-III4 in the present study was 11 years. She presented a complicated form of HSP. Her brain MRI showed a TCC in the sagittal T2 sequence (Figure 2) and increased signal intensity alongside the frontal horns of lateral ventricles in the axial FLAIR sequence (Figure 2) that was reminiscent of Lynx ear sign (Figure 2).