Relevant bibliographies by topics / GBA1 gene

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'GBA1 gene'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "GBA1 gene"

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Cabasso, Or, Sumit Paul, Gali Maor, et al. "The Uncovered Function of the Drosophila GBA1a-Encoded Protein." Cells 10, no. 3 (2021): 630. http://dx.doi.org/10.3390/cells10030630.

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Human GBA1 encodes lysosomal acid β-glucocerebrosidase (GCase), which hydrolyzes cleavage of the beta-glucosidic linkage of glucosylceramide (GlcCer). Mutations in this gene lead to reduced GCase activity, accumulation of glucosylceramide and glucosylsphingosine, and development of Gaucher disease (GD). Drosophila melanogaster has two GBA1 orthologs. Thus far, GBA1b was documented as a bone fide GCase-encoding gene, while the role of GBA1a encoded protein remained unclear. In the present study, we characterized a mutant variant of the fly GBA1a, which underwent ERAD and mildly activated the UP
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Kuppuramalingam, Aparna, Or Cabasso, and Mia Horowitz. "Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences." Cells 13, no. 19 (2024): 1619. http://dx.doi.org/10.3390/cells13191619.

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The human GBA1 gene encodes lysosomal acid β-glucocerebrosidase, whose activity is deficient in Gaucher disease (GD). In Drosophila, there are two GBA1 orthologs, Gba1a and Gba1b, and Gba1b is the bona fide GCase encoding gene. Several fly lines with different deletions in the Gba1b were studied in the past. However, since most GD-associated GBA1 mutations are point mutations, we created missense mutations homologous to the two most common GD mutations: the mild N370S mutation (D415S in Drosophila) and the severe L444P mutation (L494P in Drosophila), using the CRISPR-Cas9 technology. Flies hom
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Atilano, Magda L., Alexander Hull, Catalina-Andreea Romila, et al. "Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease." PLOS Genetics 19, no. 12 (2023): e1011063. http://dx.doi.org/10.1371/journal.pgen.1011063.

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Mutations in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD) and are the greatest known genetic risk factors for Parkinson’s disease (PD). Communication between the gut and brain and immune dysregulation are increasingly being implicated in neurodegenerative disorders such as PD. Here, we show that flies lacking the Gba1b gene, the main fly orthologue of GBA1, display widespread NF-kB signalling activation, including gut inflammation, and brain glial activation. We also demonstrate intestinal autophagic defects, gut dysfunction, and microbiome dysbiosis. Remarkably, mod
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Cabasso, Paul, Dorot, et al. "Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease." Journal of Clinical Medicine 8, no. 9 (2019): 1420. http://dx.doi.org/10.3390/jcm8091420.

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Gaucher disease (GD) results from mutations in the GBA1 gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of mutations known to date in the gene lead to a heterogeneous disorder, which is divided into a non-neuronopathic, type 1 GD, and two neurological, type 2 and type 3, forms. We studied the two fly GBA1 orthologs, GBA1a and GBA1b. Each contains a Minos element insertion, which truncates its coding sequence. In the GBA1am/m flies, which express a mutant protein, missing 33 C-terminal amino acids, there was no decrease in GCase activity or substrate accumulation. How
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Skrahin, Aliaksandr, Mia Horowitz, Majdolen Istaiti, et al. "GBA1-Associated Parkinson’s Disease Is a Distinct Entity." International Journal of Molecular Sciences 25, no. 13 (2024): 7102. http://dx.doi.org/10.3390/ijms25137102.

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GBA1-associated Parkinson’s disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic underpinnings that differentiate GBA1-PD from idiopathic Parkinson’s disease (iPD). GBA1-PD typically presents with earlier onset and more rapid progression, with a poor response to standard PD medications. It is marked by pronounced cognitive impairment and a higher burden of non-motor symptoms compared to iPD. Additionally, patients with GBA1-PD often exhibit
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Smith, Adam R., David M. Richards, Katie Lunnon, Anthony H. V. Schapira та Anna Migdalska-Richards. "DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations". International Journal of Molecular Sciences 24, № 3 (2023): 2687. http://dx.doi.org/10.3390/ijms24032687.

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Parkinson’s disease (PD) is a common movement disorder, estimated to affect 4% of individuals by the age of 80. Mutations in the glucocerebrosidase 1 (GBA1) gene represent the most common genetic risk factor for PD, with at least 7–10% of non-Ashkenazi PD individuals carrying a GBA1 mutation (PD-GBA1). Although similar to idiopathic PD, the clinical presentation of PD-GBA1 includes a slightly younger age of onset, a higher incidence of neuropsychiatric symptoms, and a tendency to earlier, more prevalent and more significant cognitive impairment. The pathophysiological mechanisms underlying PD-
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Kojima, Rika, Wojciech Paslawski, Guochang Lyu, Ernest Arenas, Xiaoqun Zhang, and Per Svenningsson. "Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson’s Disease Patients with GBA1 Mutations." International Journal of Molecular Sciences 25, no. 1 (2024): 683. http://dx.doi.org/10.3390/ijms25010683.

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Mutations in the GBA1 gene increase the risk of developing Parkinson’s disease (PD). However, most carriers of GBA1 mutations do not develop PD throughout their lives. The mechanisms of how GBA1 mutations contribute to PD pathogenesis remain unclear. Cerebrospinal fluid (CSF) is used for detecting pathological conditions of diseases, providing insights into the molecular mechanisms underlying neurodegenerative disorders. In this study, we utilized the proximity extension assay to examine the levels of metabolism-linked protein in the CSF from 17 PD patients carrying GBA1 mutations (GBA1-PD) an
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Pavan, Eleonora, Paolo Peruzzo, Silvia Cattarossi, et al. "Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions." International Journal of Molecular Sciences 25, no. 12 (2024): 6615. http://dx.doi.org/10.3390/ijms25126615.

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Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the proteolytical cleavage of prosaposin (encoded by PSAP gene), which gives rise to four saposins. GCase is targeted to the lysosomes by LIMP-2, encoded by SCARB2 gene. GCase deficiency causes Gaucher Disease (GD), which is mainly due to biallelic pathogenetic variants in the GCase-encoding gene, GBA1. However, impairment of GCase activity can be rarely caused by SapC or LIMP-2 deficiencies. We report a new case of LIMP-2 deficie
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Okai, Takuro, Sho Sato, Mugdha Deshpande та ін. "AAV delivery of GBA1 suppresses α-synuclein accumulation in Parkinson’s disease models and restores functions in Gaucher’s disease models". PLOS One 20, № 5 (2025): e0321145. https://doi.org/10.1371/journal.pone.0321145.

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Biallelic mutations in the glucosylceramidase beta 1 (GBA1) gene are the underlying genetic cause of Gaucher’s disease (GD), resulting in a deficient lysosomal hydrolase and subsequent accumulation of glycosphingolipids. More recently, GBA1 mutations have been identified as the most prevalent genetic risk factor for Parkinson’s disease (PD), associated with more pronounced symptoms characterized by earlier onset and accelerated cognitive decline. In these GBA-associated PD patients the α-synuclein pathology is more prominent, and recent data suggest a link between α-synucleinopathies and GBA1
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Emelyanov, Anton K., Tatiana S. Usenko, Alena E. Kopytova та ін. "Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic <i>GBA1</i> Mutation Carriers". Annals of Clinical and Experimental Neurology 18, № 3 (2024): 50–57. http://dx.doi.org/10.17816/acen.1106.

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Introduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in the substantia nigra of the brain, which is associated with the aggregation of α-synuclein protein. However, not all GBA1 mutation carriers develop PD during their lifetime. The aim of this study was to evaluate GCase activity and α-synuclein levels in CD45+ blood cells of patients with PD associated with GBA1 mutations (GBА1-PD), asymptomatic car
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Dissertations / Theses on the topic "GBA1 gene"

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MORABITO, GIUSEPPE. "Gene therapy approaches for neurological disorders using newly generated AAV strains." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2018. http://hdl.handle.net/10281/199043.

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La mancanza di tecnologia per la manipolazione diretta su scala globale del sistema nervoso del topo adulto ha ostacolato la ricerca sui processi e disfunzioni cerebrali. Attualmente, il trasferimento genico è normalmente ottenuto mediante iniezioni virali intraparenchimali, ma queste iniezioni mirano a un'area del cervello ristretta. Qui, abbiamo dimostrato che la somministrazione endovenosa di un vettore virale adeno-associato (AAV) -PHP.B ha permeato e diffuso in tutto il parenchima neurale, trasducendo sia il sistema nervoso centrale e periferico in un modello globale. Abbiamo quindi stabi
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Guimarães, Beatriz de Carvalho. "Rastreamento de mutações no gene GBA como fator de risco ao desenvolvimento da doença de Parkinson na população brasileira." Universidade do Estado do Rio de Janeiro, 2012. http://www.bdtd.uerj.br/tde_busca/arquivo.php?codArquivo=3690.

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Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro<br>A doença de Parkinson (DP) é a segunda doença neurodegenerativa mais frequente, depois da doença de Alzheimer, com uma incidência de aproximadamente 3,3% na população brasileira acima dos 60 anos. Ela é caracterizada por uma perda dos neurônios dopaminérgicos da parte compacta da substância negra e pela presença de inclusões protéicas intracelulares denominadas corpúsculos de Lewy nos neurônios sobreviventes. A DP tem uma etiologia complexa que envolve interações genes-ambiente e múltiplos genes de susceptibilidade. Nesse contexto, m
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Martínez, Arias Rosa. "Variación haploide en secuencias nucleares humanas: el pseudogén GBA." Doctoral thesis, Universitat Pompeu Fabra, 2001. http://hdl.handle.net/10803/7069.

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Hemos analizado la variabilidad genética de una zona no codificante autosómica, el pseudogén homólogo al gen de la glucocerebrosidasa (psGBA). <br/>Parte del análisis se ha realizado desde la perspectiva de la genética de poblaciones humanas. <br/>Desde un punto de vista más genómico hemos establecido la dinámica de la región, a fin de entender las causas del espectro de variación. Hemos analizado el papel de la mutación, recombinación, conversión génica y, especialmente, selección. <br/>Por otra parte, psGBA es importante en la producción de alelos complejos GBA-psGBA, que provocan los tipos
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Mason, Lyndel Ann. "Expression variation in lysosomal storage disorder genes." Queensland University of Technology, 2006. http://eprints.qut.edu.au/16240/.

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Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively. They are lysosomal storage disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement resulting in high morbidity and mortality. The overall aim of this study is to elucidate the genetic component/s of high ASA and GBA enzyme activity in normal healthy individuals with the ultimate goal of using this information to produce greater protein activity from a recombinant protein. A wide variati
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Diaz, Font Anna. "Caracterització de mutacions causants de la malaltia de Gaucher. Aproximació a una teràpia gènica." Doctoral thesis, Universitat de Barcelona, 2006. http://hdl.handle.net/10803/1871.

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La malaltia de Gaucher és una malaltia d'herència autosòmica recessiva, causada per mutacions en el gen GBA, o en alguns pocs casos, per mutacions en el gen PSAP. El gen GBA codifica la hidrolasa lisosòmica Glucocerebrosidasa i el gen PSAP codifica la proteïna activadora de l'enzim anterior, la Saposina C.<br/>Fins al moment s'han descrit més de 200 mutacions en el gen GBA causants de la malaltia de Gaucher, que han permès desenvolupar un diagnòstic molecular de la malaltia, i unes poques en el gen PSAP.<br/>Aquestes mutacions produeixen una deficiència en alguna d'aquestes dues proteïnes, la
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Mason, Lyndel Ann. "Expression variation in lysosomal storage disorder genes." Thesis, Queensland University of Technology, 2006. https://eprints.qut.edu.au/16240/1/Lyndel_Mason_Thesis.pdf.

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Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively. They are lysosomal storage disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement resulting in high morbidity and mortality. The overall aim of this study is to elucidate the genetic component/s of high ASA and GBA enzyme activity in normal healthy individuals with the ultimate goal of using this information to produce greater protein activity from a recombinant protein. A wide variati
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Hsu, Hong-Yi, and 許宏宜. "Systematic analysis of Gbx1 and Gbx2 in Zebrafish Embryonic Gene Regulatory Network." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/37379712637277625383.

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碩士<br>國立清華大學<br>生物資訊與結構生物研究所<br>95<br>In the post genomic era, the study of molecular biology has expanded into the study of interactions between genes and molecules. Genomic regulatory networks concerns the transcription factors as well as signal transduction components and the interaction between them, those interaction forms a networks like architecture which explain fully the detail mechanism underlying the embryogenesis. The gene regulatory networks for early development have become so important in recent study; the GRN has been published for endomesoderm in sea urchin, mesoderm in Xenopu
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Rosa, Bruno Miguel Gomes. "Défice cognitivo na doença de parkinson : relação com as mutações no gene da glucocerbrosidase (GBA)." Master's thesis, 2012. http://hdl.handle.net/10316/35355.

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Trabalho final do mestrado em medicina do desporto com vista à atribuição do Grau de Mestre (área científica de neurologia), apresentado à Faculdade de Medicina da Universidade de Coimbra<br>A Doença de Parkinson caracteriza-se pelo aparecimento de manifestações motoras, tais como, bradicinésia, tremor de repouso, rigidez e instabilidade postural, no entanto, grande parte dos doentes apresentam manifestações não motoras, entre as quais disfunção cognitivas. As alterações cognitivas incluem défice nas funções executivas, alterações da memória, défices de atenção e alterações das capacidades vis
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Teixeira, Neuza dos Prazeres Lima 1982. "Estudo genético e fenotípico dos operões fsr e gelE-sprE em diferentes espécies de Enterococcus." Master's thesis, 2009. http://hdl.handle.net/10451/1045.

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Martinho, Sara Isabel da Silva. "Doença de Gaucher e seu tratamento: uma revisão narrativa." Master's thesis, 2021. http://hdl.handle.net/10284/10857.

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A doença de Gaucher é uma doença rara, autossómica recessiva, que resulta de uma acumulação anormal de uma substância lipídica, conhecida como glucocerebrosídeo ou glucosilceramida. Normalmente, o glucocerebrosídeo é metabolizado pela enzima glucocerebrosidase (ou β-glucosidase ácida). São as mutações no gene da glucocerebrosidase 1, a causa mais prevalente de todas as formas da doença de Gaucher. Essa alteração genética significa que a enzima não funciona corretamente ou está totalmente ausente. Isso, por sua vez, leva à acumulação de glucocerebrosídeo nas células. É por causa desta aglomera
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Books on the topic "GBA1 gene"

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Galvin, James E., and Jose Tomas Bras. Neurobiology of Lewy Body Dementias. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0055.

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Lewy body dementia (LBD) is the second most common form of neurocognitive disorder after Alzheimer’s disease and covers two related diagnoses: Dementia with Lewy Bodies and Parkinson’s Disease Dementia. Despite being a common disorder, diagnosis outside expert academic centers remains a significant challenge. The core pathological feature of LBD is the cortical Lewy body; however, many cases will have coexistent Alzheimer disease pathology. Genetic risk factors for LBD include mutations in genes for alpha-synuclein (SNCA) and galactocerbrosidase (GBA). Dopamine transporter imaging remains the
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Gaucher’s Disease. Exon Publications, 2024. http://dx.doi.org/10.36255/gauchers-disease.

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Gaucher’s Disease is a genetic disorder that affects the body’s ability to break down certain fatty substances, leading to their buildup in organs such as the liver, spleen, and bone marrow. This article provides a thorough guide to understanding the disease, its causes, symptoms, and available treatments. It begins with an explanation of what Gaucher’s Disease is and outlines its prevalence across different populations. The guide explores the three main types of the disease, highlighting their differences in severity and the organs they affect. It explains the genetic basis of the condition,
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Book chapters on the topic "GBA1 gene"

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Silva, Bárbara Pereira, Mariana Araújo e. Souza, Catarina Sampaio de Castro, et al. "Gaucher disease: A diagnostic approach, clinical evolution and review." In Harmony of Knowledge: Exploring Interdisciplinary Synergie. Seven Editora, 2023. http://dx.doi.org/10.56238/sevened2023.006-006.

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Introducion: Gaucher disease is an inherited metabolic disorder caused by a mutation in the GBA1 gene, resulting in deficiency of the enzyme beta-glucosidase and accumulation of glucocerebroside in tissues. This disease, which is an autosomal recessive inheritance, affects organs such as the spleen, liver, bone marrow and central nervous system. Case Presentation: A 23-year-old male was referred to the internal medicine service for evaluation of hepatosplenomegaly and anemia. She reports persistent lower extremity pain for a period of 5 years and increased abdominal volume. No history of comor
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Berge-Seidl, Victoria, and Mathias Toft. "Linking glucocerebrosidase gene (GBA) variants and Parkinson's disease." In Genetics, Neurology, Behavior, and Diet in Parkinson's Disease. Elsevier, 2020. http://dx.doi.org/10.1016/b978-0-12-815950-7.00005-9.

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Giraldo, Pilar, Jose-Luis Capablo, and Miguel Pocovi. "Neuronopathic Forms in Subjects with Mutations in GBA Gene." In Human Genetic Diseases. InTech, 2011. http://dx.doi.org/10.5772/18949.

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Galvin, James E., and Jose Tomas Bras. "The Lewy Body Dementias." In Charney and Nestler's Neurobiology of Mental Illness, 6th ed., edited by Alison M. Goate. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197640654.003.0057.

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Abstract Lewy body dementia (LBD) is the second most common form of neurocognitive disorder after Alzheimer’s disease and covers two related diagnoses: dementia with Lewy Bodies and Parkinson’s disease dementia. Despite being a common disorder, diagnosis outside expert academic centers remains a significant challenge. The core pathological feature of LBD is the cortical Lewy body; however, many cases will have coexistent Alzheimer’s disease pathology. Genetic risk factors for LBD include mutations in genes for apolipoprotein E (APOE), α-synuclein (SNCA), and galactocerebrosidase (GBA). Dopamin
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Adekpate, Alain Albert. "À propos du genre des noms en nouchi." In Les parlers urbains africains au prisme du plurilinguisme : description sociolinguistique. Observatoire européen du plurilinguisme, 2020. http://dx.doi.org/10.3917/oep.kosso.2020.01.0039.

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Le genre, au sens que la grammaire donne &amp;#224; ce terme, renvoie &amp;#224; la r&amp;#233;partition en classes des noms marqu&amp;#233;es par des morph&amp;#232;mes particuliers (masculin, f&amp;#233;minin et neutre) et manifest&amp;#233;e, dans un certain nombre de langues, par des relations d&amp;#8217;accord qu&amp;#8217;entretiennent avec certaines classes d&amp;#8217;unit&amp;#233;s les noms, dans la combinatoire (adjectifs, pronoms et d&amp;#233;terminants possessifs, articles, d&amp;#233;monstratifs etc.). Cette r&amp;#233;partition se fonde dans une certaine mesure sur les propri&
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Conference papers on the topic "GBA1 gene"

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Bezrukova, A. I., K. S. Basharova, I. V. Miliukhina, S. N. Pchelina, and T. S. Usenko. "EXPRESSION OF AUTOPHAGY-RELATED GENES IN GBA1 MUTATIONS CARRIERS WITH AND WITHOUT PARKINSON’S DISEASE." In X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023. Novosibirsk State University, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-297.

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The molecular mechanisms of the neurodegenerative disease, Parkinson’s disease (PD), associated with mutations in the GBA1 gene (GBA-PD) are unknown. Recent data point to the role of autophagy, in particular of the PI3K/AKT/mTOR pathway, in PD pathogenesis. The study revealed pronounced alterations in the expression of autophagy-related genes are involved in the PI3K/AKT/mTOR pathway in GBA-PD. v
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Bezrukova, A. I., K. S. Basharova, M. M. Rudenok, et al. "MTOR-A POTENTIAL THERAPEUTIC TARGET FOR PARKINSON’S DISEASE WITH MUTATIONS IN THE GBA1 GENE." In XI МЕЖДУНАРОДНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ: БИОИНФОРМАТИКОВ, БИОТЕХНОЛОГОВ, БИОФИЗИКОВ, ВИРУСОЛОГОВ, МОЛЕКУЛЯРНЫХ БИОЛОГОВ И СПЕЦИАЛИСТОВ ФУНДАМЕНТАЛЬНОЙ МЕДИЦИНЫ. IPC NSU, 2024. https://doi.org/10.25205/978-5-4437-1691-6-302.

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The molecular mechanisms of the neurodegenerative disorder Parkinson’s disease (PD) associated with mutations in the GBA1 gene which encodes the lysosomal enzyme glucocerebrosidase (GCase) gene, (GBA1-PD) are unknown. Transcriptome analysis of cellular and animal models with induced parkinsonism and GCase dysfunction, followed by subsequent validation, showed impairment of mTOR-dependent autophagy. The potential therapeutic significance of mTOR for the treatment of GBA1-PD was also assessed.
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Basharova, K. S., A. I. Bezrukova, E. V. Grigor’eva, et al. "ALTERATION OF BIOCHEMICAL PARAMETERS OF LYSOSOMAL ACTIVITY UPON INHIBITION OF LRRK2 KINASE ACTIVITY IN CELL LINES FROM PATIENTS WITH PARKINSON’S DISEASE ASSOCIATED WITH MUTATIONS IN THE GBA1 GENE." In X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023. Novosibirsk State University, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-296.

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The prospect of using LRRK2 inhibitors as treatment strategy for Parkinson’s disease (PD) associated with mutations in the gene GBA1 (GBA-PD), encoding the lysosomal enzyme glucocerebrosidase (GCase) is currently being discussed. We assessed the effectiveness of the LRRK2 kinase activity inhibitor MLi-2 in restoring GCase functions and the effect on the activity of other lysosomal enzymes in cell lines of patients with GBA-PD, LRRK2-PD.
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Gill, Sandeep, Sukhraj Gill, Madeline Williamson, and J. David Avila. "A Rare Case of Hereditary Spastic Paraplegia 46 With Novel Compound Heterozygous GBA2 gene variants (P3-8.013)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000203075.

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