First symptom guides diagnosis and prognosis in neurodegenerative diseases-a retrospective study of autopsy proven cases.

Vöglein, Jonathan; Kostova, Irena; Arzberger, Thomas; Roeber, Sigrun; Schmitz, Peer; Simons, Mikael; Ruf, Viktoria; Windl, Otto; Herms, Jochen; Dieterich, Marianne; Danek, Adrian; Höglinger, Günter U; Giese, Armin; Levin, Johannes

doi:10.1111/ene.14800

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2021

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Title:: First symptom guides diagnosis and prognosis in neurodegenerative diseases-a retrospective study of autopsy proven cases.
Document type:: Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):: Vöglein, Jonathan; Kostova, Irena; Arzberger, Thomas; Roeber, Sigrun; Schmitz, Peer; Simons, Mikael; Ruf, Viktoria; Windl, Otto; Herms, Jochen; Dieterich, Marianne; Danek, Adrian; Höglinger, Günter U; Giese, Armin; Levin, Johannes
Abstract:: BACKGROUND AND PURPOSE: Clinical diagnostic criteria for neurodegenerative diseases have been framed based on clinical phenomenology. However, systematic knowledge about the first reported clinical symptoms in neurodegenerative diseases is lacking. Therefore, the aim was to determine the prevalence and clinical implications of the first clinical symptom (FS) as assessed by medical history in neuropathologically proven neurodegenerative diseases. METHODS: Neuropathological diagnoses from the Neurobiobank Munich, Germany, were matched with clinical records for analyses of the diagnostic and prognostic values of FSs. RESULTS: In all, 301 patients with the neuropathological diagnoses Alzheimer disease (AD), progressive supranuclear palsy (PSP), frontotemporal lobar degeneration (FTLD), Lewy body disease (LBD) including the neuropathologically indistinguishable clinical phenotypes Parkinson disease and dementia with Lewy bodies, multiple system atrophy (MSA) and corticobasal degeneration (CBD) were studied. Memory disturbance was the most common FS in AD (34%), FTLD (19%) and LBD (26%), gait disturbance in PSP (35%) and MSA (27%) and aphasia and personality changes in CBD (20%, respectively). In a model adjusting for prevalence in the general population, AD was predicted by memory disturbance in 79.0%, aphasia in 97.2%, personality changes in 96.0% and by cognitive disturbance in 99.0%. Gait disturbance and tremor predicted LBD in 54.6% and 97.3%, coordination disturbance MSA in 59.4% and dysarthria FTLD in 73.0%. Cognitive FSs were associated with longer survival in AD (12.0 vs. 5.3 years; p < 0.001) and FTLD (8.2 vs. 4.1 years; p = 0.005) and motor FSs with shorter survival in PSP (7.2 vs. 9.7; p = 0.048). CONCLUSIONS: Assessing FSs in neurodegenerative diseases may be beneficial for accuracy of diagnosis and prognosis and thereby may improve clinical care and precision of study recruitment.
Journal title abbreviation:: Eur J Neurol
Year:: 2021
Journal volume:: 28
Journal issue:: 6
Pages contribution:: 1801-1811
Fulltext / DOI:: doi:10.1111/ene.14800
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/33662165
Print-ISSN:: 1351-5101
TUM Institution:: 617; Lehrstuhl für Zellbiologie des Nervensystems (Prof. Misgeld)
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