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Page 1
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP. Pedroso JL, et al. Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15. Cerebellum. 2022. PMID: 34782953 Review.
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. ...
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of …
Hereditary Myelopathies.
Hedera P. Hedera P. Continuum (Minneap Minn). 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580. Continuum (Minneap Minn). 2018. PMID: 29613898 Review.
PURPOSE OF REVIEW: Hereditary myelopathies are very diverse genetic disorders, and many of them represent a widespread neurodegenerative process rather than isolated spinal cord dysfunction. ...Moreover, a negative genetic test does not exclude the diagnosis of a heredi
PURPOSE OF REVIEW: Hereditary myelopathies are very diverse genetic disorders, and many of them represent a widespread neurodegenerat …
Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP. Pedroso JL, et al. Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30. Arq Neuropsiquiatr. 2023. PMID: 38035585 Free PMC article. Review.
BACKGROUND: Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. ...Myoclonus is rarely described in SPG, affecting patients with SP …
BACKGROUND: Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous disease …
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
Babu K, Seamon K, Jewell A, Harrison A, Harper A, Al Saif H, Couser N. Babu K, et al. Ophthalmic Genet. 2023 Aug;44(4):379-384. doi: 10.1080/13816810.2022.2116651. Epub 2022 Sep 13. Ophthalmic Genet. 2023. PMID: 36098092 Review.
PURPOSE: Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare variant subtype of mitofusin 2 (MFN2) associated Charcot-Marie-Tooth disease, with ophthalmic manifestations largely limited to optic at
PURPOSE: Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare varian …
Leber's hereditary optic atrophy.
Berninger TA, Bird AC, Arden GB. Berninger TA, et al. Ophthalmic Paediatr Genet. 1989 Sep;10(3):211-27. doi: 10.3109/13816818909009877. Ophthalmic Paediatr Genet. 1989. PMID: 2685705 Review.
Leber described a particular type of hereditary optic atrophy in 1871. The clinical features of all cases since reported are reviewed. ...Colour vision defects are observed not only in patients, but also in presumed carriers. Electrophysiological investigatio …
Leber described a particular type of hereditary optic atrophy in 1871. The clinical features of all cases since reporte …
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP. de Freitas JL, et al. J Neurol Sci. 2020 Feb 15;409:116620. doi: 10.1016/j.jns.2019.116620. Epub 2019 Dec 6. J Neurol Sci. 2020. PMID: 31865189 Review.
These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. ...There are other genetic diseases such as autosomal recessive spastic ataxia of Charlevoix-Sa …
These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic
The peroxisome and the eye.
Folz SJ, Trobe JD. Folz SJ, et al. Surv Ophthalmol. 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. Surv Ophthalmol. 1991. PMID: 1710072 Free article. Review.
Ophthalmic manifestations include corneal opacification, cataract, glaucoma, pigmentary retinopathy and optic atrophy. Neonatal adrenoleukodystrophy and infantile Refsum's disease appear to be genetically distinct, but clinically, biochemically, and pathologically s …
Ophthalmic manifestations include corneal opacification, cataract, glaucoma, pigmentary retinopathy and optic atrophy. Neonata …
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G. Pareyson D, et al. Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Neurosci Lett. 2015. PMID: 25847151 Review.
GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either with recessive demyelinating (CMT4A) and axonal CMT (AR-CMT2K) and, less commonly, with dominant, milder, axonal CMT (CMT2K). OPA1 (Optic Atrophy-1) is involved in fus …
GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either with recessive demyelinating (CMT4A) and …
Genetics of hereditary spastic paraplegias.
Schüle R, Schöls L. Schüle R, et al. Semin Neurol. 2011 Nov;31(5):484-93. doi: 10.1055/s-0031-1299787. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266886 Review.
Hereditary spastic paraplegias (HSPs) are clinically and genetically highly heterogeneous. The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of signs and symptoms including cognitive impairment, optic atrophy, cerebellar at
Hereditary spastic paraplegias (HSPs) are clinically and genetically highly heterogeneous. The key symptom of spastic paraparesis of
Neuropathy associated with mitochondrial disorders.
Schröder JM. Schröder JM. Brain Pathol. 1993 Apr;3(2):177-90. doi: 10.1111/j.1750-3639.1993.tb00742.x. Brain Pathol. 1993. PMID: 8293179 Review.
Altered mitochondria within peripheral nerves were found in most cases of mitochondrial myopathy, in all cases of hereditary motor and sensory neuropathy with optic atrophy (HMSN VI) and in 25 cases out of a larger series of 280 un …
Altered mitochondria within peripheral nerves were found in most cases of mitochondrial myopathy, in all cases of hereditary motor
37 results