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Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.

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Title: Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
Authors: Fereshtehnejad, Seyed-Mohammad (AUTHOR), Saleh, Philip A. (AUTHOR), Oliveira, Lais M. (AUTHOR), Patel, Neha (AUTHOR), Bhowmick, Suvorit (AUTHOR), Saranza, Gerard (AUTHOR), Kalia, Lorraine V. (AUTHOR)
Source: Neurological Sciences. Mar2023, Vol. 44 Issue 3, p947-959. 13p. 1 Color Photograph, 1 Diagram, 4 Charts, 2 Graphs.
Subjects: Familial spastic paraplegia, Movement disorders, Schoenlein-Henoch purpura, Genetic disorders, Resource-limited settings, Age of onset, Peripheral neuropathy
Abstract: Background : Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of HSP can extend to include other neurologic features, including movement disorders. Our aim was to investigate genotype–phenotype associations in HSP with a focus on movement disorders. Methods: We performed a systematic review and individual participant data (IPD)-level meta-analysis by retrieving publications from Medline/EMBASE/Web of Science on HSP with a SPG genotype. Studies were included only if individual-level information was accessible and at least one patient with a movement disorder was reported for that genotype. Out of 21,957 hits, 192 manuscripts with a total of 1413 HSP cases were eligible. Data were compared between two HSP groups: manifested with (HSP-MD, n = 767) or without (HSP-nMD, n = 646) a movement disorder. Results: The HSP-MD group had an older age of onset (20.5 ± 16.0 vs. 17.1 ± 14.2 yr, p < 0.001) and less frequent autosomal dominant inheritance (7.6% vs. 30.1%, p < 0.001) compared to HSP-nMD. SPG7 (31.2%) and SPG11 (23.8%) were the most frequent genotypes in the HSP-MD group. HSP-MD with SPG7 had higher frequency of later onset during adulthood (82.9% vs. 8.5%), ataxia (OR = 12.6), extraocular movement disturbances (OR = 3.4) and seizure (OR = 3.7) compared to HSP-MD with SPG11. Conversely, SPG11 mutations were more frequently associated with consanguinity (OR = 4.1), parkinsonism (OR = 7.8), dystonia (OR = 5.4), peripheral neuropathy (OR = 26.9), and cognitive dysfunction (OR = 34.5). Conclusion: This systematic IPD-level meta-analysis provides the largest data on genotype–phenotype associations in HSP-MD. Several clinically relevant phenotypic differences were found between various genotypes, which can possibly facilitate diagnosis in resource-limited settings. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
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  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Fereshtehnejad%2C+Seyed-Mohammad%22&quot;&gt;Fereshtehnejad, Seyed-Mohammad&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Saleh%2C+Philip+A%2E%22&quot;&gt;Saleh, Philip A.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Oliveira%2C+Lais+M%2E%22&quot;&gt;Oliveira, Lais M.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Patel%2C+Neha%22&quot;&gt;Patel, Neha&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Bhowmick%2C+Suvorit%22&quot;&gt;Bhowmick, Suvorit&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Saranza%2C+Gerard%22&quot;&gt;Saranza, Gerard&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Kalia%2C+Lorraine+V%2E%22&quot;&gt;Kalia, Lorraine V.&lt;/searchLink&gt; (AUTHOR)
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  Data: &lt;searchLink fieldCode=&quot;JN&quot; term=&quot;%22Neurological+Sciences%22&quot;&gt;Neurological Sciences&lt;/searchLink&gt;. Mar2023, Vol. 44 Issue 3, p947-959. 13p. 1 Color Photograph, 1 Diagram, 4 Charts, 2 Graphs.
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Familial+spastic+paraplegia%22&quot;&gt;Familial spastic paraplegia&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Movement+disorders%22&quot;&gt;Movement disorders&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Schoenlein-Henoch+purpura%22&quot;&gt;Schoenlein-Henoch purpura&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Genetic+disorders%22&quot;&gt;Genetic disorders&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Resource-limited+settings%22&quot;&gt;Resource-limited settings&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Age+of+onset%22&quot;&gt;Age of onset&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Peripheral+neuropathy%22&quot;&gt;Peripheral neuropathy&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background : Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in &gt; 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of HSP can extend to include other neurologic features, including movement disorders. Our aim was to investigate genotype–phenotype associations in HSP with a focus on movement disorders. Methods: We performed a systematic review and individual participant data (IPD)-level meta-analysis by retrieving publications from Medline/EMBASE/Web of Science on HSP with a SPG genotype. Studies were included only if individual-level information was accessible and at least one patient with a movement disorder was reported for that genotype. Out of 21,957 hits, 192 manuscripts with a total of 1413 HSP cases were eligible. Data were compared between two HSP groups: manifested with (HSP-MD, n = 767) or without (HSP-nMD, n = 646) a movement disorder. Results: The HSP-MD group had an older age of onset (20.5 &#177; 16.0 vs. 17.1 &#177; 14.2 yr, p &lt; 0.001) and less frequent autosomal dominant inheritance (7.6% vs. 30.1%, p &lt; 0.001) compared to HSP-nMD. SPG7 (31.2%) and SPG11 (23.8%) were the most frequent genotypes in the HSP-MD group. HSP-MD with SPG7 had higher frequency of later onset during adulthood (82.9% vs. 8.5%), ataxia (OR = 12.6), extraocular movement disturbances (OR = 3.4) and seizure (OR = 3.7) compared to HSP-MD with SPG11. Conversely, SPG11 mutations were more frequently associated with consanguinity (OR = 4.1), parkinsonism (OR = 7.8), dystonia (OR = 5.4), peripheral neuropathy (OR = 26.9), and cognitive dysfunction (OR = 34.5). Conclusion: This systematic IPD-level meta-analysis provides the largest data on genotype–phenotype associations in HSP-MD. Several clinically relevant phenotypic differences were found between various genotypes, which can possibly facilitate diagnosis in resource-limited settings. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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        Value: 10.1007/s10072-022-06516-8
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        Text: English
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              Text: Mar2023
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