Hereditary spastic paraplegia from 1880 to 2017: an historical review

Faber, Ingrid; Pereira, Eduardo Rafael; Martínez, Alberto; França, Marcondes C.; Teive, Hélio Afonso Ghizoni

doi:10.1590/0004-282x20170160

Cited by 30 publications

(26 citation statements)

References 53 publications

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“…The inherited modes of HSPs include autosomal dominant (AD), autosomal recessive (AR), or X‐linked recessive . At least 80 different genetic loci for HSPs (SPG1‐80) have been identified, and 60 genes are currently cloned . Among pure and dominantly inherited HSPs, heterozygous variant in the neuronal isoform of carnitine palmitoyl‐transferase (CPT1C) gene as the genetic cause of SPG73 is a new locus added to the genetic list of SPGs recently .…”

Section: Introductionmentioning

confidence: 99%

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course

Hong

Cong

Zhong

et al. 2019

Ann Clin Transl Neurol

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Hereditary spastic paraplegia 73 (SPG73) was currently identified in only one family with variant in the neuronal isoform of carnitine palmitoyl‐transferase 1C (CPT1C) gene. We described a new family, in which affected individuals exhibited pure hereditary spastic paraplegia with benign clinical course. Exome sequencing revealed a novel nonsense variant in the CPT1C gene. The level of CPT1C mutant transcript significantly decreased compared to that of wild‐type transcript, and can be recovered after cycloheximide administration, which indicated that nonsense‐mediated mRNA decay was a mechanism that might be responsible for the phenotype. Our findings expanded the clinical and genetic spectrum of SPG73.

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Section: Introductionmentioning

confidence: 99%

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course

Hong

Cong

Zhong

et al. 2019

Ann Clin Transl Neurol

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“…Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms (Faber, Pereira, Martinez, França Jr, & Teive, 2017). Some HSP-related genes may be involved in other disorders in which spasticity is not among the main features, for example, FA2H (OMIM 611026) and KIAA1840 (OMIM 610844) mutations may cause neurodegeneration with brain-iron accumulation and Charcot-Marie-Tooth (CMT) (Kruer et al, 2010;Montecchiani et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

Estiar

Léveillé

Spiegelman

et al. 2020

Molec Gen & Gen Med

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Background Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor–Rakeb syndrome (KRS), have been recently implicated in HSP. Methods Whole‐exome sequencing was done in a Canada‐wide HSP cohort. Results Three additional patients with homozygous ATP13A2 mutations were identified, representing 0.7% of all HSP families. Spastic paraplegia was the predominant feature, all patients suffered from psychiatric symptoms, and one patient had developed seizures. Of the identified mutations, c.2126G>C;(p.[Arg709Thr]) is novel, c.2158G>T;(p.[Gly720Trp]) has not been reported in ATP13A2‐related diseases, and c.2473_2474insAAdelC;p.[Leu825Asnfs*32]) has been previously reported in KRS but not in HSP. Structural analysis of the mutations suggested a disruptive effect, and enrichment analysis suggested the potential involvement of specific pathways. Conclusion Our study suggests that in HSP patients with psychiatric symptoms, ATP13A2 mutations should be suspected, especially if they also have extrapyramidal symptoms.

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“…Hereditary spastic paraplegia (HSP) comprises a group of heterogeneous neurodegenerative diseases, characterized by genetic mutations that cause distal neuropathy of the longest corticospinal tract axons [1,2]. Thus far, 55 spastic paraplegia genes (SPGs) have been identified.…”

Section: Introductionmentioning

confidence: 99%

Desflurane for management of decompressive laminectomy in a patient with hereditary spastic paraplegia: a case report

et al. 2019

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Background: Hereditary spastic paraplegia (HSP) is a rare, genetic neurodegenerative condition. Thus far, ideal anesthetic management is not established for patients with HSP; therefore, careful selection and dosage of anesthetic agents is required. Case presentation: A 54-year-old woman with HSP, who was diagnosed with severe lumbar spinal canal stenosis, underwent decompressive laminectomy to relieve her back pain. Preoperatively, she experienced slight difficulty in walking independently; however, she exhibited no other dysfunction. Anesthesia was maintained with desflurane after tracheal intubation. Rocuronium and sugammadex were used for neuromuscular blockade and reversal, respectively, with neuromuscular monitoring equipment. The patient showed uneventful postoperative recovery without signs of neurological deterioration after extubation. Conclusions: Our successful experience in this case implies that, for patients with neuromuscular diseases, including HSP, desflurane may be an option for anesthetic management; moreover, careful assessment (e.g., medical condition, bispectral index, and train-of-four) should be performed prior to administration of anesthesia.

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Hereditary spastic paraplegia from 1880 to 2017: an historical review

Cited by 30 publications

References 53 publications

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

Desflurane for management of decompressive laminectomy in a patient with hereditary spastic paraplegia: a case report

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