Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias

被引:1
作者
Aloisio, Simone [1 ]
Satolli, Sara [2 ]
Bellini, Gabriele [3 ]
Lopriore, Piervito [3 ]
机构
[1] Univ Campania Luigi Vanvitelli, Dept Adv Med & Surg Sci DAMSS, Naples, Italy
[2] IRCCS Fdn Stella Maris, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy
[3] Univ Pisa, Neurol Inst, Dept Clin & Expt Med, Pisa, Italy
关键词
Neurogenetics; Parkinsonism; Familial Alzheimer's disease; Frontotemporal dementia; Hereditary ataxia; Hereditary spastic paraplegia; MULTIPLE SYSTEM ATROPHY; FRONTOTEMPORAL DEMENTIA; PRESENILIN-1; MUTATION; ALZHEIMER-DISEASE; PREMUTATION CARRIERS; MOVEMENT-DISORDERS; LATERAL-SCLEROSIS; PHENOTYPE; VARIABILITY; IMPAIRMENT;
D O I
10.1007/s10072-023-07044-9
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Parkinsonism is a syndrome characterized by bradykinesia in combination with either rest tremor, rigidity, or both. These features are the cardinal manifestations of Parkinson's disease, the most common cause of parkinsonism, and atypical parkinsonian disorders. However, parkinsonism can be a manifestation of complex neurological and neurodegenerative genetically determined disorders, which have a vast and heterogeneous motor and non-motor phenotypic features. Hereditary dementias, adult-onset ataxias and spastic paraplegias represent only few of this vast group of neurogenetic diseases. This review will provide an overview of parkinsonism's clinical features within adult-onset neurogenetic diseases which a neurologist could face with. Understanding parkinsonism and its characteristics in the context of the aforementioned neurological conditions may provide insights into pathophysiological mechanisms and have important clinical implications, including diagnostic and therapeutic aspects.
引用
收藏
页码:3379 / 3388
页数:10
相关论文
共 77 条
[1]  
Anheim M, 2009, J NEUROL, V256, P104, DOI 10.1007/s00415-009-0083-3
[2]   Frontotemporal Dementia, Where Do We Stand? A Narrative Review [J].
Antonioni, Annibale ;
Raho, Emanuela Maria ;
Lopriore, Piervito ;
Pace, Antonia Pia ;
Latino, Raffaela Rita ;
Assogna, Martina ;
Mancuso, Michelangelo ;
Gragnaniello, Daniela ;
Granieri, Enrico ;
Pugliatti, Maura ;
Di Lorenzo, Francesco ;
Koch, Giacomo .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (14)
[3]   Tau and α-synuclein brainstem pathology in Alzheimer disease:: relation with extrapyramidal signs [J].
Attems, Johannes ;
Quass, Magdalena ;
Jellinger, Kurt A. .
ACTA NEUROPATHOLOGICA, 2007, 113 (01) :53-62
[4]   Parkinsonism, movement disorders and genetics in frontotemporal dementia [J].
Baizabal-Carvallo, Jose Fidel ;
Jankovic, Joseph .
NATURE REVIEWS NEUROLOGY, 2016, 12 (03) :175-185
[5]   Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease [J].
Bateman, Randall J. ;
Aisen, Paul S. ;
De Strooper, Bart ;
Fox, Nick C. ;
Lemere, Cynthia A. ;
Ringman, John M. ;
Salloway, Stephen ;
Sperling, Reisa A. ;
Windisch, Manfred ;
Xiong, Chengjie .
ALZHEIMERS RESEARCH & THERAPY, 2011, 3 (01)
[6]   Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C [J].
Bellini, Gabriele ;
Del Prete, Eleonora ;
Unti, Elisa ;
Frosini, Daniela ;
Siciliano, Gabriele ;
Ceravolo, Roberto .
BMC NEUROLOGY, 2021, 21 (01)
[7]   Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide [J].
Benussi, Luisa ;
Ghidoni, Roberta ;
Pegoiani, Eleonora ;
Moretti, Davide V. ;
Zanetti, Orazio ;
Binetti, Giuliano .
NEUROBIOLOGY OF DISEASE, 2009, 33 (03) :379-385
[8]   Cellular Pathways of Hereditary Spastic Paraplegia [J].
Blackstone, Craig .
ANNUAL REVIEW OF NEUROSCIENCE, VOL 35, 2012, 35 :25-47
[9]   History of falls in Parkinson disease is associated with reduced cholinergic activity [J].
Bohnen, N. I. ;
Mueller, M. L. T. M. ;
Koeppe, R. A. ;
Studenski, S. A. ;
Kilbourn, M. A. ;
Frey, K. A. ;
Albin, R. L. .
NEUROLOGY, 2009, 73 (20) :1670-1676
[10]   Gait speed in Parkinson disease correlates with cholinergic degeneration [J].
Bohnen, Nicolaas I. ;
Frey, Kirk A. ;
Studenski, Stephanie ;
Kotagal, Vikas ;
Koeppe, Robert A. ;
Scott, Peter J. H. ;
Albin, Roger L. ;
Mueller, Martijn L. T. M. .
NEUROLOGY, 2013, 81 (18) :1611-1616