Neuropsychological functioning and brain magnetic resonance imaging (MRI) were evaluated in 84 men with adrenomyeloneuropathy (AMN). MRI was normal in 61%, the "pure AMN" group, while 39%, the "cerebral AMN" group, showed brain white matter abnormalities. Except for mild deficits in psychomotor speed and visual memory, neuropsychological function was normal in pure AMN. Most patients with cerebral AMN had normal IQ and language but evidenced impaired psychomotor speed, spatial cognition, memory, and executive functions. Patients with MRI evidence of very severe cerebral disease had global and language impairment as well, and deficits in all patients were highly correlated with degree of brain MRI involvement.
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http://dx.doi.org/10.1002/ana.410400419 | DOI Listing |
Eur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
Distinguishing between Parkinson's disease (PD) and essential tremor (ET) can be challenging sometimes. Although positron emission tomography can confirm PD diagnosis, its application is limited by high cost and exposure to radioactive isotopes. Patients with PD exhibit loss of the dorsal nigral hyperintensity on brain magnetic resonance imaging (MRI).
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Headache Department, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescents and children, although it is less common. Numerous elements, including coagulopathy, have been documented in previous cases as potential etiological factors of IIH.
View Article and Find Full Text PDFJ Neuroinflammation
January 2025
Department of Cerebrovascular Diseases, The Second Affiliated Hospital of Zhengzhou University, 2 Jingba Road, Zhengzhou, Henan, China.
Background: Intracerebral hemorrhage (ICH) causes prominent deposition of extracellular matrix molecules, particularly the chondroitin sulphate proteoglycan (CSPG) member neurocan. In tissue culture, neurocan impedes the properties of oligodendrocytes. Whether therapeutic reduction of neurocan promotes oligodendrogenesis and functional recovery in ICH is unknown.
View Article and Find Full Text PDFBMC Geriatr
January 2025
Department of Rehabilitation Medicine (Rehabilitation Center), Qilu Hospital of Shandong University, No. 107, Wenhuaxi Road, Jinan , Shandong, 250012, China.
Background: Mild cognitive impairment (MCI) is a high-risk factor for dementia and dysphagia; therefore, early intervention is vital. The effectiveness of intermittent theta burst stimulation (iTBS) targeting the right dorsal lateral prefrontal cortex (rDLPFC) remains unclear.
Methods: Thirty-six participants with MCI were randomly allocated to receive real (n = 18) or sham (n = 18) iTBS.
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