Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stéphanie; Santorelli, Filippo M.; Alfares, Ahmed; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas; Otero, María Gabriela; Chen, Jin Yun Helen; Peterson, James; Strom, Tim M.; Jonghe, Peter De; Deconinck, Tine; Ridder, Willem De; Winter, Jonathan De; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, R; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng; Bilgüvar, Kaya; Hamed, Sherifa A.; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair T.; Wood, Nicholas W.; Mau‐Them, Frédéric Tran; Haack, Tobias B.; Rocco, Maja Di; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laëtitia; Schmitt, Étienne; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal Olgaç; Uyanık, Gökhan; Schöls, Ludger; Nürnberg, Peter; Nürnberg, Gudrun; Català-Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana P.; Bouçanova, Filipa; Médard, Jean-Jacques; Chrast, Roman; Auer‐Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan E.; Tala, Saeed Al; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik‐Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan

doi:10.1093/brain/awab193

Cited by 3 publications

(4 citation statements)

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“…Finally, another example is SPG83, causing symptoms ranging from microcephaly and severe intellectual disability to pure late-onset HSP caused by biallelic variants in HPDL [ 218 , 219 , 220 ]. The gene encodes for an enzyme that was recently associated with an alternative pathway to coenzyme Q10 biosynthesis [ 221 ].…”

Section: Hsp-related Ips Cell Linesmentioning

confidence: 99%

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias

Damiani,

Baggiani,

Della Vecchia

et al. 2024

IJMS

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Hereditary spastic paraplegias (HSPs) comprise a family of degenerative diseases mostly hitting descending axons of corticospinal neurons. Depending on the gene and mutation involved, the disease could present as a pure form with limb spasticity, or a complex form associated with cerebellar and/or cortical signs such as ataxia, dysarthria, epilepsy, and intellectual disability. The progressive nature of HSPs invariably leads patients to require walking canes or wheelchairs over time. Despite several attempts to ameliorate the life quality of patients that have been tested, current therapeutical approaches are just symptomatic, as no cure is available. Progress in research in the last two decades has identified a vast number of genes involved in HSP etiology, using cellular and animal models generated on purpose. Although unanimously considered invaluable tools for basic research, those systems are rarely predictive for the establishment of a therapeutic approach. The advent of induced pluripotent stem (iPS) cells allowed instead the direct study of morphological and molecular properties of the patient’s affected neurons generated upon in vitro differentiation. In this review, we revisited all the present literature recently published regarding the use of iPS cells to differentiate HSP patient-specific neurons. Most studies have defined patient-derived neurons as a reliable model to faithfully mimic HSP in vitro, discovering original findings through immunological and –omics approaches, and providing a platform to screen novel or repurposed drugs. Thereby, one of the biggest hopes of current HSP research regards the use of patient-derived iPS cells to expand basic knowledge on the disease, while simultaneously establishing new therapeutic treatments for both generalized and personalized approaches in daily medical practice.

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Section: Hsp-related Ips Cell Linesmentioning

confidence: 99%

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias

Damiani,

Baggiani,

Della Vecchia

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

“…It uses fluorescently labeled specific nucleic acid probes to hybridize with corresponding target dNA or RNA molecules in cells. Fluorescent signaling with relatively poor specificity and insufficient hybridization compared to PCR is not the method of choice for the detection of mtdNA (149,(354)(355)(356)(357)(358)(359)(360)(361)(362). Moreover, after the mitochondria are separated from cells or tissues, the dNA in the remaining material is extracted (kits can be used) and the dNA of the sample can be sequenced.…”

Section: Measurement Of Rosmentioning

confidence: 99%

Common methods in mitochondrial research (Review)

Yin

Shen

2022

Int J Mol Med

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Mitochondrial abnormalities are primarily seen in morphology, structure and function. They can cause damage to organs, including the heart, brain and muscle, by various mechanisms, such as oxidative stress, abnormal energy metabolism, or genetic mutations. Identifying and detecting pathophysiological alterations in mitochondria is the principal means of studying mitochondrial abnormalities. The present study reviewed methods in mitochondrial research and focused on three aspects: Mitochondrial extraction and purification, morphology and structure and function. In addition to classical methods, such as electron microscopy and mitochondrial membrane potential monitoring, newly developed methods, such as mitochondrial ultrastructural determination, mtdNA mutation assays, metabolomics and analyses of regulatory mechanisms, have also been utilized in recent years. These approaches enable the accurate detection of mitochondrial abnormalities and provide guidance for the diagnosis and treatment of related diseases. Contents1. Introduction 2. Extraction and purification of mitochondria 3. determination of mitochondrial morphology and structure 4. determination of mitochondrial function 5.

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“…The HPDL ‐related neurodegenerative disorder is clinically characterized by two main phenotypes: a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), and Spastic paraplegia 83 (SPG83). NEDSWMA presents usually with severe neurodevelopmental delay, brain atrophy, and spasticity in infancy, while SPG83 is characterized by spastic paraplegia in juveniles (Husain et al, 2020; Wiessner et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

“…So far, clinical reports of individuals with damaging HPDL variants were limited, and clinical phenotypic information may also be incomplete (Ghosh et al, 2021; Husain et al, 2020; Morgan et al, 2021; Sun et al, 2021; Wiessner et al, 2021). Here, we report one patient from a Chinese family presenting with global developmental delay, hypertonia, and limb spasticity, and summarized the clinical presentation of the infant who carried HPDL variants.…”

Section: Introductionmentioning

confidence: 99%

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders

Wang

Zheng

Feng

et al. 2022

Molec Gen & Gen Med

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Background Recent research found that biallelic HPDL variants can cause neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), with only a few reports. Clinical phenotypic information on individuals with damaging HPDL variants may also be incomplete. The phenotype of NEDSWMA is characterized by severe neurodevelopmental delay, brain atrophy, and spasticity in infancy. Methods Exome sequencing was used in the proband and his parents to identify the underlying genetic cause. Candidate mutations were validated by classic Sanger sequencing. The clinical presentation of the infant who carried HPDL variants was summarized. Results We identified a novel compound heterozygous variants in HPDL, c.995delC (p.T332Mfs) and c.1051C>T (p.Q351*) in the patient a 6‐month‐old boy presenting with global developmental delay, seizures, hypertonia, and limb spasticity. Brain magnetic resonance imaging (MRI) showed thin corpus callosum, ventriculomegaly, white matter volume reduction, bilateral frontotemporal subarachnoid widening, and sulcus deeping. Conclusion Our results provided important information for the associations of variants in HPDL with the neurodevelopmental disorder in infants, and broaden the genetic spectrum of HPDL‐related disease. This is the second report of the HPDL mutation causing infant neurodevelopmental disorders in a Chinese population.

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Cited by 3 publications

References 0 publications

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias

Common methods in mitochondrial research (Review)

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders

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