کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8687795 | 1580948 | 2018 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
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کلمات کلیدی
ROIWESMoCANPICMAPACE-RSPG11DTIPNPSPRSSTSHspCSt - CSTMotor neuron disorder - اختلال نورون موتورMontreal Cognitive Assessment - ارزیابی شناختی مونترالamyotrophic lateral sclerosis - اسکلروز جانبی آمیوتروفیکALS - بیماری اسکلروز جانبی آمیوتروفیکdiffusion tensor imaging - تصویربرداری تانسور انتشارWhole exome sequencing - توالی کامل exomecorticospinal tract - دستگاه گوارشperipheral nervous system - سیستم عصبی پیرامونیSNAP - ضربه محکم و ناگهانیSpinal cord - طناب نخاعیgrey matter - ماده خاکستریwhite matter - ماده سفیدmean diffusivity - متوسط نفوذپذیریregion of interest - منطقه مورد نظرfractional anisotropy - ناپیوستگی کسریright hemisphere - نیمکره راستleft hemisphere - نیمکره چپHereditary spastic paraplegia - پاراپلژی اسپاستیک ارثیSensory nerve action potential - پتانسیل عمل عصب احساسیcompound muscle action potential - پتانسیل عمل عضله مرکبNeuropsychiatric Inventory - پرسشنامه نوروپسیتیکPNS - کارمندان دولت
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
روانپزشکی بیولوژیکی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic Paraplegia. The disease has a wide phenotypic variability indicating many regions of the nervous system besides the corticospinal tract are affected. Despite this, anatomical and phenotypic characterization is restricted. In the present study, we investigate the anatomical abnormalities related to SPG11 mutations and how they relate to clinical and cognitive measures. Moreover, we aim to depict how the disease course influences the regions affected, unraveling different susceptibility of specific neuronal populations. We performed clinical and paraclinical studies encompassing neuropsychological, neuroimaging, and neurophysiological tools in a cohort of twenty-five patients and age matched controls. We assessed cortical thickness (FreeSurfer software), deep grey matter volumes (T1-MultiAtlas tool), white matter microstructural damage (DTI-MultiAtlas) and spinal cord morphometry (Spineseg software) on a 3â¯T MRI scan. Mean age and disease duration were 29 and 13.2â¯years respectively. Sixty-four percent of the patients were wheelchair bound while 84% were demented. We were able to unfold a diffuse pattern of white matter integrity loss as well as basal ganglia and spinal cord atrophy. Such findings contrasted with a restricted pattern of cortical thinning (motor, limbic and parietal cortices). Electromyography revealed motor neuronopathy affecting 96% of the probands. Correlations with disease duration pointed towards a progressive degeneration of multiple grey matter structures and spinal cord, but not of the white matter. SPG11-related hereditary spastic paraplegia is characterized by selective neuronal vulnerability, in which a precocious and widespread white matter involvement is later followed by a restricted but clearly progressive grey matter degeneration.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: NeuroImage: Clinical - Volume 19, 2018, Pages 848-857
Journal: NeuroImage: Clinical - Volume 19, 2018, Pages 848-857
نویسندگان
Ingrid Faber, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Carlos Roberto Jr., Melina Pazian Martins, Charles Marques Lourenço, Wilson Jr., Celeste Montecchiani, Antonio Orlacchio, Jose Luiz Pedroso,