frontotemporal lobar degeneration/tremor

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Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions.

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Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.

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OBJECTIVE Genes encoding RNA-binding proteins, including FUS and TDP43, play a central role in different neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Recently, a mutation located in the nuclear export signal (NES) of the FUS gene has been

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

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OBJECTIVE In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic frontotemporal lobar degeneration and amyotrophic

[A 76-year-old woman with personality change, dementia and parkinsonism].

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We report a patient who developed personality change, dementia and parkinsonism. The patient was a Japanese woman who died at age 76. She developed memory problems at age 63. At age 66, she started showing personality changes, and began having short-step gait and mask-like face. On admission to our

TDP-43 in Alzheimer's disease is not associated with clinical FTLD or Parkinsonism.

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Widespread deposition of TAR DNA-binding protein of 43 kDa (TDP-43), a major protein inclusion commonly found in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) can also be seen in a subset of cases with Alzheimer's disease (AD). Some of these AD cases have TDP-43

Unusual clinical presentation and neuropathology in two subjects with fused-in sarcoma (FUS) positive inclusions.

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We report two unusual autopsy cases with frontotemporal lobar degeneration (FTLD) that were hyperphosphorylated-tau- and TAR DNA binding protein 43 (TDP-43)- negative. The behavioral symptoms in both cases were compatible with frontotemporal dementia, but they exhibited more prominent speech and

Corticobasal syndrome: Five new things.

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Corticobasal syndrome (CBS) is characterized by asymmetric involuntary movements including rigidity, tremor, dystonia, and myoclonus, and often associated with apraxia, cortical sensory deficits, and alien limb phenomena. Additionally, there are various nonmotor (cognitive and language) deficits.

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

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Mutations in the fused in sarcoma (FUS) gene have been associated with amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration, and essential tremor. Among the FUS mutations, p.P525L as a hot spot variant has been reported in more than 20 patients with ALS. Apart from

FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis.

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BACKGROUND FUS/TLS is an RNA-binding protein whose genetic mutations or pathological inclusions are associated with neurological diseases including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration, and essential tremor (ET). It is unclear whether their pathogenesis is mediated

Neuropathology of Lewy body disease: Clinicopathological crosstalk between typical and atypical cases.

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Lewy body disease (LBD) is characterized by the presence of Lewy bodies (LBs) and Lewy neurites and comprises a diagnostic spectrum that includes Parkinson's disease (PD), PD with dementia, and dementia with LBs. LBs and Lewy neurites are insoluble aggregates composed mainly of phosphorylated

Clinicopathologic study of Alzheimer's disease: Alzheimer mimics.

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A definite diagnosis of Alzheimer's disease (AD) can only be made at autopsy. Even at expert research centers, diagnostic accuracy is relatively low. We conducted this study to examine the accuracy of clinical diagnosis of AD and present a list of clinical and neuropsychological findings that could

The role of FUS gene variants in neurodegenerative diseases.

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The neurodegenerative diseases are a diverse group of disorders characterized by progressive loss of specific groups of neurons. These diseases affect different populations, and have a variable age of onset, clinical symptoms, and pathological findings. Variants in the FUS gene, which encodes an

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