A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings
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- 作者：Rossana Terlizzia ; b ; Giovanna Calandra-Buonauraa ; b ; Stefano Zanignib ; c ; Giorgio Barlettaa ; b ; Sabina Capellaria ; b ; Pietro Guaraldid ; Vincenzo Donadioa ; b ; Ernesto Casone ; Manuela Contina ; b ; Roberto Podaa ; Caterina Tononb ; c ; Luisa Sambatia ; b ; Roberto Gallassia ; Rocco Liguoria ; b ; Raffaele Lodib ; c ; Pietro Cortellia ; b ; pietro.cortelli@unibo.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：123I-MIBG ; iodine-123 metaiodobenzylguanidine scintigraphy ; A ; Adrenaline ; ADLD ; adult-onset autosomal dominant leukodystrophy ; ANS ; autonomic nervous system ; DB ; deep breathing ; EDSS ; Expanded Disability Status Scale score ; HG ; isometric handgrip ; HUTT ; head-up tilt test ; LMNB1 ; Lamin B1 ; MRI ; magnetic resonance imaging ; NA ; Noradrenaline ; VM ; Valsalva manoeuvre
- 刊名：Autonomic Neuroscience: Basic and Clinical
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：195
- 期：Complete
- 页码：20-26
- 全文大小：815 K
文摘
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Autonomic disorder in ADLD involves the postganglionic-sympathetic system including the sympatho-adrenal response.
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Morphological changes were demonstrated by an extra cardiac sympathetic degeneration.
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Cognitive involvement consisting in a selective and early impairment of executive tasks.