Dysfluencies in pure akinesia with gait freezing: Two case reports

Letter, Miet De; Borsel, John Van; Dewulf, Julie; Santens, Patrick

doi:10.1016/j.jneuroling.2010.12.002

Cited by 2 publications

(1 citation statement)

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“…Most patients develop the disease at middle or late age (75 ± 8 years) and death occurs on average 7 years later [ 35 ]. In more recent years, the spectrum of PSP syndromes has been extended to not only include classical PSP syndrome, termed the Richardson’s type, but also PSP-parkinsonism, which presents as a more asymmetrical disorder resembling Parkinson’s disease [ 177 ] and the syndrome of pure akinesia characterized by freezing of gait and speech dysfluencies as most prominent features [ 34 , 177 ]. CBS most frequently presents as a combined clinical picture, consisting of a focal cortical deficit (e.g.…”

Section: Introductionmentioning

confidence: 99%

The genetics and neuropathology of frontotemporal lobar degeneration

et al. 2012

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Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders characterized by disturbances of behavior and personality and different types of language impairment with or without concomitant features of motor neuron disease or parkinsonism. FTLD is characterized by atrophy of the frontal and anterior temporal brain lobes. Detailed neuropathological studies have elicited proteinopathies defined by inclusions of hyperphosphorylated microtubule-associated protein tau, TAR DNA-binding protein TDP-43, fused-in-sarcoma or yet unidentified proteins in affected brain regions. Rather than the type of proteinopathy, the site of neurodegeneration correlates relatively well with the clinical presentation of FTLD. Molecular genetic studies identified five disease genes, of which the gene encoding the tau protein (MAPT), the growth factor precursor gene granulin (GRN), and C9orf72 with unknown function are most frequently mutated. Rare mutations were also identified in the genes encoding valosin-containing protein (VCP) and charged multivesicular body protein 2B (CHMP2B). These genes are good markers to distinguish underlying neuropathological phenotypes. Due to the complex landscape of FTLD diseases, combined characterization of clinical, imaging, biological and genetic biomarkers is essential to establish a detailed diagnosis. Although major progress has been made in FTLD research in recent years, further studies are needed to completely map out and correlate the clinical, pathological and genetic entities, and to understand the underlying disease mechanisms. In this review, we summarize the current state of the rapidly progressing field of genetic, neuropathological and clinical research of this intriguing condition.

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Section: Introductionmentioning

confidence: 99%