Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 1
2009 1
2010 2
2011 2
2012 2
2014 2
2015 1
2016 1
2017 1
2018 2
2019 2
2020 1
2021 5
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 38"
Page 1
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.
Chen YJ, Wang MW, Qiu YS, Yuan RY, Wang N, Lin X, Chen WJ. Chen YJ, et al. Mov Disord. 2023 Sep;38(9):1750-1755. doi: 10.1002/mds.29522. Epub 2023 Jul 2. Mov Disord. 2023. PMID: 37394769
OBJECTIVES: To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance. ...
OBJECTIVES: To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation …
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.
Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, Szczaluba K, Mierzewska H, King SD, Santorelli FM, Yoon G, Trombetta B, Kivisäkk P, Zhang B, Sahin M, Ebrahimi-Fakhari D. Alecu JE, et al. Mov Disord. 2023 Sep;38(9):1742-1750. doi: 10.1002/mds.29524. Epub 2023 Jul 22. Mov Disord. 2023. PMID: 37482941
BACKGROUND: Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1. ...Patients' phenotypes were systematically assessed using the AP-4-HSP natural history stu …
BACKGROUND: Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biall …
Functional and Clinical Outcomes of Combined Simultaneous Bilateral Anterior Distal Femoral Plate Hemiepiphysiodesis and Hamstrings Release in Management of Knee Flexion Contractures in Children With Neuromuscular Disorders.
Zaghloul A, Manoukian D, Barrett MC, Geronta I, Maizen C. Zaghloul A, et al. J Pediatr Orthop. 2021 Oct 1;41(9):559-565. doi: 10.1097/BPO.0000000000001942. J Pediatr Orthop. 2021. PMID: 34387232
Relevant demographics, Gross Motor Functional Classification Score and preoperative and postoperative knee flexion contractures and popliteal angles were documented. ...Diagnoses included cerebral palsy (n=16), Cornelia de Lange syndrome (n=1), hereditary spastic …
Relevant demographics, Gross Motor Functional Classification Score and preoperative and postoperative knee flexion contractures and p …
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.
Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr. Servelhere KR, et al. Eur J Neurol. 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. Eur J Neurol. 2016. PMID: 26806216
BACKGROUND AND PURPOSE: Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). METHODS: Thirty patients with SPG4-HSP and …
BACKGROUND AND PURPOSE: Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequen …
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM. Garcia-Cazorla À, et al. J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21. J Inherit Metab Dis. 2015. PMID: 25413954 Free article. Review.
Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via Gordon Holmes syndrome to spastic ataxia and pure hereditary …
Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPL …
Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.
Ardolino G, Bocci T, Nigro M, Vergari M, Di Fonzo A, Bonato S, Cogiamanian F, Cortese F, Cova I, Barbieri S, Priori A. Ardolino G, et al. J Spinal Cord Med. 2021 Jan;44(1):46-53. doi: 10.1080/10790268.2018.1543926. Epub 2018 Dec 3. J Spinal Cord Med. 2021. PMID: 30508408 Free PMC article. Clinical Trial.
Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and lower limb weakness. We assessed the effects of transcutaneous spinal direct current stimulation (tsDCS) …
Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases character …
Symptomatic spinal cord compression: an uncommon symptom in pseudohypoparathyroidism.
Tan X, Guo Y, Liu Y, Liu C, Pei L. Tan X, et al. Ann N Y Acad Sci. 2021 Nov;1503(1):38-47. doi: 10.1111/nyas.14584. Epub 2021 Mar 4. Ann N Y Acad Sci. 2021. PMID: 33660862 Review.
We found that the primary clinical manifestation of these patients was bilateral lower extremity spastic paraplegia. Multilevel spinal cord compression was commonly observed, especially at the lower cervical and upper thoracic spinal cord. Most of the patient …
We found that the primary clinical manifestation of these patients was bilateral lower extremity spastic paraplegia. Multileve …
Disease severity affects quality of life of hereditary spastic paraplegia patients.
Klimpe S, Schüle R, Kassubek J, Otto S, Kohl Z, Klebe S, Klopstock T, Ratzka S, Karle K, Schöls L. Klimpe S, et al. Eur J Neurol. 2012 Jan;19(1):168-71. doi: 10.1111/j.1468-1331.2011.03443.x. Epub 2011 Jun 1. Eur J Neurol. 2012. PMID: 21631647
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) causes progressive gait disturbance because of degeneration of the corticospinal tract. ...METHODS: HRQoL was assessed by the Short-Form 36 (SF-36) Mental and Physical Component summary scores …
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) causes progressive gait disturbance because of degeneration …
A Randomized Controlled Trial of the Effect of Repetitive Transcranial Magnetic Stimulation of the Motor Cortex on Lower Extremity Spasticity in Hereditary Spastic Paraplegia.
Bastani PB, Kordjazi M, Oveisgharan S, Abdi S. Bastani PB, et al. J Clin Neurophysiol. 2023 Feb 1;40(2):173-179. doi: 10.1097/WNP.0000000000000874. Epub 2021 Nov 23. J Clin Neurophysiol. 2023. PMID: 34817445 Clinical Trial.
INTRODUCTION: Hereditary spastic paraplegia refers to a group of conditions characterized by a slow progression of spasticity in lower limbs resulting in gait abnormalities. ...CONCLUSIONS: Repetitive transcranial magnetic stimulation is an effective method i …
INTRODUCTION: Hereditary spastic paraplegia refers to a group of conditions characterized by a slow progression of spas …
Toe Walking: A Neurological Perspective After Referral From Pediatric Orthopaedic Surgeons.
Haynes KB, Wimberly RL, VanPelt JM, Jo CH, Riccio AI, Delgado MR. Haynes KB, et al. J Pediatr Orthop. 2018 Mar;38(3):152-156. doi: 10.1097/BPO.0000000000001115. J Pediatr Orthop. 2018. PMID: 29309384
Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/108) autism spectrum disorder, 13.9% (15/108) hereditary spastic paraparesis, 8.3% (9/108) attention deficit hyperactivity disor …
Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/10 …
22 results