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Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series.
Ann Clin Transl Neurol
December 2024
Department of Neurology, Movement Disorders Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Autosomal-dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of hereditary spastic paraplegia. However, we report two unrelated males with novel CPT1C variants (NM_001199753.2: patient 1: c.
View Article and Find Full Text PDFA Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.
Cerebellum
December 2024
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.
View Article and Find Full Text PDFPrenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.
BMC Med Genomics
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
Background: The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.
View Article and Find Full Text PDFSyringomyelia Mimicking as Bibrachial Variant of Motor Neuron Disease.
J Assoc Physicians India
December 2024
Resident, Department of Neurosurgery, Ravindra Nath Tagore Medical College, Udaipur, Rajasthan, India.
Introduction: Syringomyelia is a slowly progressive degenerative disorder of the spinal cord. Clinical features of syringomyelia vary from weakness in limbs to positive sensory symptoms and dissociative sensory loss. Thus, early and prompt diagnosis becomes crucial for reducing the morbidity associated with the disease.
View Article and Find Full Text PDFMotor Neuron Diseases and Central Nervous System Tractopathies: Clinical-Radiologic Correlation and Diagnostic Approach.
Radiographics
January 2025
From the Departments of Radiology (A.B.D., A.A., E.H.M., A.A.B., V.G.) and Neurology (A.S.M., K.H.M., S.L.C.), Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224; Department of Neurology, Mayo Clinic, Rochester, MN (N.K., E.S., E.P.F.); and Department of Medical, Surgical and Experimental Sciences, University of Sassari, Sassari, Italy (E.S.).
Article Synopsis
- * Amyotrophic lateral sclerosis (ALS) is the most common acquired motor neuron disease, with multiple variants affecting different motor neuron types; characteristic MRI features include T2 hyperintensities along key areas of the brain.
- * Other conditions, including toxic, metabolic, genetic, and infectious diseases, can also damage corticospinal tracts, leading to upper motor neuron injury symptoms, which can be identified through MRI imaging.
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