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J Neurol (2007) 254:107109 DOI 10.1007/s00415-006-0282-0
LETTER TO THE EDITORS
Antonella Alberici Mario Armani Anna Paterlini Luisa Benussi Francesca Nicosia Roberta Ghidoni Simona Signorini Maria Cotelli Giovanni B. Frisoni Cristina Geroldi Carlo P. Trevisan John H. Growdon Barbara Borroni Alessandro Padovani Paolo M. Rossini Giuliano Binetti
Tau missing from CSF A case report
Received: 21 December 2005 Received in revised form: 14 April 2006 Accepted: 27 April 2006 Published online: 3 February 2007
Sirs: Most of the neurodegenerative diseases known collectively as tauopathies, such as Frontotemporal Lobar Degeneration (FTLD), have excessive deposits of hyper-phosphorylated tau in affected neurons and glia [6]. Paradoxically, the general label of tauopathy has been expanded to include cases in which tau was not identied in the brain and therefore were named as tau-less dementia [7, 12, 13].
In addition, cerebrospinal uid (CSF) studies have reported very low levels of tau in cases of FTLD, but still uncertain is 1) how common these cases are, and 2) how to distinguish tau positive from tau negative patients [5].
The present case contributes to answering these questions, describing an early onset FTLD patient who lacked detectable levels of tau in the CSF.
The proband is a right-handed woman with 8 years of education who, at age 41 developed depression with no previous history of alcohol or substance abuse, prior psychiatric or neurological disease. Family history indicated that her mother had been diagnosed with Alzheimers disease at age 67, but further details were not accessible. The patient received antidepressant medication, with no benet. Six months later, she was admitted to the neurology department because of the reduction of her speech output. She was found to be depressed and apa-
thetic. Spontaneous speech was sparse and non uent. The MMSE score was 22/30. Metabolic and infectious causes of dementia were excluded by laboratory tests. Brain MRI is reported in Fig. 1A. At the age of 43, the patient displayed severe behavioural disturbances along with global aphasia, and brain SPECT was performed(Fig. 1B).
A blood sample was drawn from the patient and DNA was isolated according to standard procedures. Genetic analyses were performed as previously described [3]. In addition, different pairs of primers were used to sequence overlapping fragments of exon 0 (position g.7757 to g.8061,...