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Page 1
Primary-progressive multiple sclerosis.
Miller DH, Leary SM. Miller DH, et al. Lancet Neurol. 2007 Oct;6(10):903-12. doi: 10.1016/S1474-4422(07)70243-0. Lancet Neurol. 2007. PMID: 17884680 Review.
Spinal cord atrophy corresponds to the usual clinical presentation of progressive spastic paraplegia. Although neuroaxonal degeneration seems to underlie PPMS, the pathogenesis and the extent to which immune-mediated mechanisms operate is unclear. ...
Spinal cord atrophy corresponds to the usual clinical presentation of progressive spastic paraplegia. Although neuroaxo …
Inborn errors of brain myelin formation.
Boespflug-Tanguy O. Boespflug-Tanguy O. Handb Clin Neurol. 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. Handb Clin Neurol. 2013. PMID: 23622380 Review.
When the pathophysiological mechanism is less severe, myelin production is maintained, although signs of progressive axonopathy are observed, related to progressive spastic paraplegia (SPG) associated with cognitive or behavioral disturbances. ...
When the pathophysiological mechanism is less severe, myelin production is maintained, although signs of progressive axonopathy are observed …
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Yogev Y, et al. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488683 Free PMC article.
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. ...
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia …
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).
Graciani Z, Santos S, Macedo-Souza LI, Monteiro CB, Veras MI, Amorim S, Zatz M, Kok F. Graciani Z, et al. Arq Neuropsiquiatr. 2010 Feb;68(1):3-6. doi: 10.1590/s0004-282x2010000100002. Arq Neuropsiquiatr. 2010. PMID: 20339643 Free article.
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropa …
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which …
A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
Liu J, Wang X, Huang D, Qi Y, Xu L, Shao Y. Liu J, et al. Medicine (Baltimore). 2024 Apr 19;103(16):e37874. doi: 10.1097/MD.0000000000037874. Medicine (Baltimore). 2024. PMID: 38640304 Free PMC article.
PATIENT CONCERNS: A 29-year-old male presented with a 4-year history of progressive spastic paraplegia, weakness of lower limbs, fecal incontinence, sexual dysfunction, hyperreflexia, and positive Babinski and Chaddock signs. ...
PATIENT CONCERNS: A 29-year-old male presented with a 4-year history of progressive spastic paraplegia, weakness of low …
Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review.
Chen Y, Li D, Xu P, Zhang A, Chen X, Chen Y. Chen Y, et al. Medicine (Baltimore). 2024 Jan 12;103(2):e36946. doi: 10.1097/MD.0000000000036946. Medicine (Baltimore). 2024. PMID: 38215098 Free PMC article. Review.
When patients with adrenocortical dysfunction complicated with progressive spastic paraplegia of lower limbs are involved, AMN should be highly suspected, and the determination of very long-chain fatty acids and genetic testing should be performed as soon as …
When patients with adrenocortical dysfunction complicated with progressive spastic paraplegia of lower limbs are involv …
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.
Rossi S, Concolino P, Di Natale D, Pasquetti D, Di Lella GM, Chiurazzi P, Silvestri G. Rossi S, et al. Neurology. 2023 Jan 24;100(4):199-205. doi: 10.1212/WNL.0000000000201516. Epub 2022 Oct 27. Neurology. 2023. PMID: 36302663
Here, we present a case of a 44-year-old man with subacute and rapidly progressive spastic paraplegia, whose brain MRI revealed white matter abnormalities compatible with a diagnosis of leukodystrophy. ...
Here, we present a case of a 44-year-old man with subacute and rapidly progressive spastic paraplegia, whose brain MRI …
Clinical Reasoning: A Middle-aged Man With Progressive Gait Abnormalities.
Lin J, Hou Y, Shang H. Lin J, et al. Neurology. 2021 Dec 14;97(24):e2423-e2428. doi: 10.1212/WNL.0000000000012756. Epub 2021 Sep 9. Neurology. 2021. PMID: 34504025
We describe the case of a middle-aged man presenting with progressive spastic paraplegia combined with ataxia and parkinsonism. No mutation of HSP genes was detected. ...The take-home message from this case was that acquired causes, especially curable causes, …
We describe the case of a middle-aged man presenting with progressive spastic paraplegia combined with ataxia and parki …
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Bektaş G, et al. Turk J Pediatr. 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016. Turk J Pediatr. 2017. PMID: 29376581 Free article.
We describe a 5-year-old boy presenting with spastic paraplegia. He developed a rapid progressive spastic paraplegia and loss of ambulation at an early age, despite the absence of accompanying seizure, neuropathy, cognitive impairment, speech disturbance, and …
We describe a 5-year-old boy presenting with spastic paraplegia. He developed a rapid progressive spastic paraplegia an …
25 results