Nikolaos Kalfakis

Alexandra Regional General Hospital, Athínai, Attica, Greece

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Publications (66)205.81 Total impact

  • Journal of Clinical Neuroscience 04/2013; · 1.32 Impact Factor
  • Alzheimer disease and associated disorders 09/2012; · 2.88 Impact Factor
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    ABSTRACT: We report a longstanding selective memory deficit in a euthyroid 45-year-old woman who was being treated with levothyroxine for Hashimoto thyroiditis. The patient had complained of memory problems and deterioration of her concentration skills for about 2 years. Her endocrinologist thought that she was depressed. The patient's physical examination was normal. She scored a full 30 points on the Mini-Mental State Examination, but neuropsychological evaluation showed a significant deficit in her verbal memory. Routine blood tests and cerebrospinal fluid analysis showed only antithyroid peroxidase antibodies. Brain magnetic resonance imaging was normal. Electroencephalogram showed scarce intermittent bilateral multifocal theta waves. We increased the patient's daily dose of levothyroxine and started her on dexamethasone therapy. Five months later, we repeated the entire evaluation and found both her cognitive function and her electroencephalogram to be normal. Autoimmune encephalopathy associated with Hashimoto thyroiditis is already known to present with either stroke-like episodes or diffuse progressive deterioration. Our patient shows that the encephalopathy can present as a chronic selective memory deficit that can spare executive functions and short-term memory. This presentation can be missed or mistaken for depression, but can be diagnosed with a detailed neuropsychological evaluation.
    Cognitive and behavioral neurology: official journal of the Society for Behavioral and Cognitive Neurology 09/2012; 25(3):144-8. · 1.09 Impact Factor
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    ABSTRACT: Background / Purpose: Do age and onset-date play an important role in depression in people with Parkinson’s disease (PD)? Main conclusion: Early onset PD leads to stronger depression levels. Our study also suggests that females are more prone to depression.
    22nd Meeting of the European Neurological Society 2012; 07/2012
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    Annals of Pharmacotherapy 08/2011; 45(10):1312-3. · 2.92 Impact Factor
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    ABSTRACT: Background / Purpose: Mutations in Progranulin (GRN) gene cause Fronto-Temporal Lobar Degeneration (FTLD) with ubiquitin and TARDBP-43-positive neuronal inclusions, without evidence of hyperphosphorylated Tau-protein aggregates. Many mutations have been reported, so far. Main conclusion: We present the case of a Greek 62 year old, female, FTLD patient, with a 15- month history of progressive language impairment of the Progressive Non-Fluent Aphasia (PNFA) type, demonstrating a novel mutation in exon 12 (g.3208G>A). This variant hasn’t been reported yet and further demonstrates the variable clinical presentations of GRN mutations, even in apparently sporadic cases with a clinical presentation of PNFA.
    21st Meeting of the European Neurological Society 2011; 07/2011
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    ABSTRACT: INTRODUCTION: Huntington disease (HD) is an autosomal dominant neurodegenerative disease characterized by choreic hyperkinesias, cognitive decline, and psychiatric manifestations, caused by an increased number of CAG repeats in the IT15 gene on chromosome 4p16.3. Silver syndrome is a rare autosomal dominant form of complicated hereditary spastic paraplegia, characterized by lower limb spasticity in addition to amyotrophy of the small muscles of the hands. In addition to the previously identified locus SPG17 on chromosome 11q12-q14, a new locus (SPG38) on chromosome 4p16-p15 has been recently identified, a region that includes the HD gene. REPORT OF THE CASES: We present a Greek family with 5 members diagnosed with HD in 4 generations. All affected members also presented with clinical features of Silver syndrome showing severe spastic paraplegia and prominent atrophy of all small hand muscles bilaterally. None of the other family members showed features of either HD or spastic paraplegia. CONCLUSIONS: The reported coexistence of Silver syndrome with HD in 4 generations is not fortuitous, suggesting that these 2 distinct genetic disorders are in linkage disequilibrium. Although rare, it is reasonable to expect additional similar cases. Clinical neurologists should perhaps investigate this possibility in cases combining features of HD and involvement of the upper and lower motor neurons.
    The Neurologist 07/2011; 17(4):211-2. · 1.08 Impact Factor
  • Neuroscience Letters 07/2011; 500. · 2.06 Impact Factor
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    ABSTRACT: A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥ 36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false-positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process.
    Clinical Genetics 11/2010; 80(6):586-90. · 3.65 Impact Factor
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    ABSTRACT: Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.14), with complex attention (z-score = -1.04), memory (z-score = -0.65), constructions (z-score = -1.29), and reasoning (z-score = -0.75) being slightly affected. Moderate-severe sleep apnea (apnea-hypopnea index [AHI] > or =15) was very frequent with most of the apneas being of the obstructive type. However, we found hardly any evidence of association between subjective, objective sleep parameters, and nps performance (p > .001). Thus, in our cohort of 23 adult MD1 patients, mild cognitive dysfunction, which is mostly related to the dysfunction of frontal association cortex and its underlying neural networks, does not seem to be significantly influenced by sleep disruption, which is mainly caused by obstructive apnea events.
    Archives of Clinical Neuropsychology 03/2010; 25(4):303-13. · 2.00 Impact Factor
  • The Journal of neuropsychiatry and clinical neurosciences 02/2010; 22(1):123.E16-7. · 2.34 Impact Factor
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    ABSTRACT: Neurocysticercosis (NC) is the most frequent and widespread human neuroparasitosis. Glioblastoma multiforme, a not infrequent brain neoplasm in young adults, may have a similar clinical and radiologic presentation as NC. Coexistence of NC and brain tumors has been very rarely reported and puts into question a causal relationship between the 2 diseases. Here we report the case of a patient in which glioblastoma multiforme and cysticercosis appeared concomitantly, making their clinical distinction very difficult.
    The Neurologist 10/2009; 15(5):293-5. · 1.08 Impact Factor
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    ABSTRACT: Cavernous hemangiomas or cavernomas are uncommon vascular malformations of the central nervous system involving most commonly the cerebral hemispheres where they are detected in young to middle aged adults. We present an unusual case of acute monoparesis caused by an intramedullary cavernoma in a woman of advanced age. A 67-year-old woman presented with walking difficulties with acute onset 2 months previously. On neurologic examination, there was a pure right leg monoparesis with moderate spasticity. Tendon reflexes were brisk and there was a Babinski's sign in her right lower limb. The initial diagnosis was lacunar stroke, but the brain magnetic resonance imaging revealed a right temporal cavernoma-obviously not associated with her monoparesis. The consequent spinal MRI revealed an intramedullary lesion at the T1 level, consistent with a cavernoma. Our patient presented with an acute monoparesis because of a spinal cavernoma, a most unusual occurrence.
    The Neurologist 10/2009; 15(5):291-2. · 1.08 Impact Factor
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    ABSTRACT: Toluene toxicity primarily affects central nervous system white matter, causing a characteristic brain MRI pattern. A toluene addicted man, after an abstinence period and a treatment with neuroleptics, presented with severe worsening of preexisting generalized tremor, opsoclonus, dysarthria, gait inability, jerky tendon reflexes and behaviour disorders. Magnetic resonance imaging showed mild leukoencephalopathy and hypointensities in deep gray matter nuclei. The DaT-scan revealed a decrease in presynaptic dopamine reuptake. Clinical and neuroradiological findings and the possible sensitivity to neuroleptics indicate dopaminergic impairment. Our case suggests that chronic toluene abuse causes presynaptic dopaminergic depletion.
    Clinical neurology and neurosurgery 09/2009; 111(10):864-7. · 1.30 Impact Factor
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    ABSTRACT: Persistent, asymptomatic (hyperCKemia) may be the prelude to, or the sole manifestation of, a neuromuscular disease. However, the clinical spectrum of facioscapulohumeral muscular dystrophy (FSHD) ranges from asymptomatic individuals with minimal clinical signs to patients who are wheelchair-bound. We describe a patient with persistent, asymptomatic hyperCKemia who received the diagnosis of 4q35 FSHD after a thorough stepwise investigation.
    Journal of Clinical Neuroscience 07/2009; 16(9):1218-9. · 1.32 Impact Factor
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    ABSTRACT: Dementia is generally considered as rapidly progressive [rapidly progressive dementia (RPD)], in cases with overt cognitive impairment, established within months. Data about the relative frequency of underlying diseases in cases of RPD are few and extremely variable, depending on the clinical setting. We examined the relative frequency of the underlying causes of RPD, in a university tertiary referral center, in Athens. A series of consecutive patients presenting with RPD in a 3-year period was included. All patients received a comprehensive clinical, imaging, and laboratory evaluation. Of a total of 279 patients hospitalized for dementia diagnosis, 68 patients had RPD (37 males and 31 females). Mean age at onset +/-SD was 65.5+/-10.0. The most common cause of RPD was secondary dementias, accounting for 18 cases (26.5%). Alzheimer disease and frontotemporal dementia were almost equally represented, accounting for 12 (17.6%) and 11 (16.2%) cases, respectively. Vascular dementia, Creutzfeldt-Jakob disease, and various neurodegenerative diseases accounted for 9 cases each (13.2%). In a tertiary referral center, secondary dementias represented the most frequent cause of cases presenting with RPD. As a substantial number of these cases are potentially treatable, our finding reconfirms and underscores the importance of an exhaustive evaluation in any case presenting with RPD.
    Alzheimer disease and associated disorders 07/2009; 23(4):337-46. · 2.88 Impact Factor
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    ABSTRACT: To investigate the frequency and causes of early-onset dementia (EOD) in consecutive patients in a highly specialized dementia referral center, focusing on unusual cases, particularly with early and/or rapid onset, in Athens, Greece. Patients referred for dementia diagnosis according to specific referral criteria during a 3 years period. We examined the distribution of patients diagnosis and differences in sex, education, dementia severity, cognitive function, and the duration of disease (from onset to referral) between the EOD (<65 y) and the late-onset dementia (LOD) groups. From a total of 260 consecutive demented patients, there were 114 EOD patients or 44% of all demented patients. No significant differences were observed between the EOD and LOD groups in cognitive or behavioral measures. However, the duration from onset to consultation was significantly longer in the EOD group. Also, in the EOD group, the rates of patients with Alzheimer disease and Parkinson disease dementia were relatively low and the rate of patients with frontotemporal lobar degeneration was relatively high and the proportion of secondary dementias was high. We conclude that EOD patients are more likely to be seen in specialized settings. The underlying diseases are considerably different in EOD compared with LOD. Secondary causes are often found in patients with EOD. Patients with EOD had an unexpectedly longer time-to-diagnosis than patients with LOD. This argues for a need of better education about the clinical presentation of dementia in the young and middle aged.
    Alzheimer disease and associated disorders 07/2009; 23(4):347-51. · 2.88 Impact Factor
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    ABSTRACT: The differential diagnosis between vascular dementia (VD) and Alzheimer's disease (AD) or mixed dementia (MD) is not always easy in clinical practice. The purpose of the present study was to evaluate the cerebrospinal fluid (CSF) biomarkers tau protein in its total (tau(T)) or hyperphosphorylated at threonin-181(tau(P-181)) form and beta amyloid peptide 1-42 (A beta 42) alone and their combinations to investigate their diagnostic value in the discrimination between VD and AD or MD. The above CSF biomarkers were determined in duplicate and blind to the clinical diagnosis by double sandwich, enzyme-linked immunosorbent assay (ELISA) commercial kits (Innogenetics, Gent, Belgium) in 92 AD patients, 23 VD patients, 17 patients with MD and 68 controls. Alzheimer's disease and MD showed increased levels of tau(T), tau(P) and reduced levels of A beta 42 as compared with the controls. The best discrimination between VD and AD or MD was achieved by the combination of all three biomarkers, correctly classifying >or=85% of patients, either in the form of a discriminant function or in the form of the tau(T) x tau(P-181)/A beta 42 formula. Cerebrospinal fluid biomarkers may be a useful adjunct for the discrimination between AD/ MD and VD in every day clinical practice.
    European Journal of Neurology 02/2009; 16(2):205-11. · 3.85 Impact Factor
  • Analytical and quantitative cytology and histology / the International Academy of Cytology [and] American Society of Cytology 01/2009; 30(6):346-8. · 0.58 Impact Factor
  • Balkan Military Medical Review. 01/2009; 12:59-61.

Publication Stats

418 Citations
205.81 Total Impact Points


  • 2012
    • Alexandra Regional General Hospital
      Athínai, Attica, Greece
  • 1991–2012
    • Eginition Hospital Athens
      Athínai, Attica, Greece
  • 2002–2009
    • National and Kapodistrian University of Athens
      • • Division of Neurology II
      • • Department of Medicine
      • • Faculty of Medicine
      Athens, Attiki, Greece
  • 2008
    • Athens State University
      Athens, Alabama, United States
  • 2001–2006
    • National Technical University of Athens
      Athínai, Attica, Greece