Nikolaos Kalfakis

Eginition Hospital Athens, Athínai, Attica, Greece

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Publications (67)204.36 Total impact

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    Full-text · Article · Apr 2013 · Journal of Clinical Neuroscience

  • No preview · Article · Sep 2012 · Alzheimer disease and associated disorders

  • No preview · Conference Paper · Sep 2012
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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.
    No preview · Article · Sep 2012 · Cognitive and behavioral neurology: official journal of the Society for Behavioral and Cognitive Neurology
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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.
    Full-text · Conference Paper · Jul 2012
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    ABSTRACT: Huntington's disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by choreic movements, cognitive decline and psychiatric disturbances. The mutation responsible for the disease is an unstable expansion of a trinucleotide CAG repeat in the first exon of the HHT gene, located on chromosome 4q16.3. A large scale prospective genetic and epidemiological study of HD was carried out in Greece between January 1995 and December 2008, the aims of which were to (a) determine the demographic, clinical and epidemi-ological features of HD in Greece, and (b) evaluate the characteristics, outcome and uptake of the molecular analysis testing for HD performed in Greece from 1995 to 2008. METHOD Diagnostic testing was carried out in 717 individuals, including 461 symptomatic patients and 256 who were subjected to pre-symptomatic testing. The methodology included clinical evaluation of all the participants, molecular genetic analysis (DNA analysis) for the detection of CAG repeats in the HTT and ATN1 genes and statistical analysis of the results. RESULTS 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 5.4:100,000 and 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%) from whom samples were 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 very low (8.6%). Prenatal testing was requested in the case of six pregnancies. CONCLUSIONS The findings of this study do not differ significantly from those of similar studies in other European countries, despite the relative genetic isolation of the Greek population. Of interest is the identification of high prevalence clusters of HD in Greece.
    No preview · Article · Nov 2011 · Archives of Hellenic Medicine
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    Full-text · Article · Aug 2011 · Annals of Pharmacotherapy
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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.
    Full-text · Conference Paper · Jul 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.
    No preview · Article · Jul 2011 · The Neurologist
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    Full-text · Article · Jul 2011 · Neuroscience Letters
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    ABSTRACT: Panas M, Karadima G, Vassos E, Kalfakis N, Kladi A, Christodoulou K, Vassilopoulos D. Huntington's disease in Greece: the experience of 14 years. 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.
    No preview · Article · Nov 2010 · Clinical Genetics
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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] ≥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.
    No preview · Article · Mar 2010 · Archives of Clinical Neuropsychology
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    Full-text · Article · Feb 2010 · The Journal of Neuropsychiatry and Clinical Neurosciences
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    ABSTRACT: The purpose of the present study is to investigate the age-related changes in muscle biopsies from the quadriceps femoris in male subjects of different ages. A histological and histochemical study was performed on specimens from the quadriceps femoris from 8 males divided into two groups, under 50 and over 70 years of age. The following measurements were performed: a) number of type 1 and 2 fibres, b) diameter of type 1 and 2 fibres, c) percentage of the number and mean diameter of the two types in the interior and the peripheral area of fascicles. The proportion of type 2 fibres decreased significantly with age (p < 0.005), especially in the periphery of the fascicles, but the proportion of type 1 fibres was not significantly changed. The correlation of fibre size with age showed that type 2 fibres decrease in size with age. This finding was more evident in the periphery of the fascicles (p < 0.05). We found that type 2 skeletal muscle fibres decreased in size and proportion with increasing age. The existence of these age changes should be taken into account in the interpretation of muscle biopsies of aged individuals.
    No preview · Article · Nov 2009 · Polish journal of pathology: official journal of the Polish Society of Pathologists
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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.
    No preview · Article · Oct 2009 · The Neurologist
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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.
    No preview · Article · Oct 2009 · The Neurologist
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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.
    No preview · Article · Sep 2009 · Clinical neurology and neurosurgery
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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.
    No preview · Article · Jul 2009 · Journal of Clinical Neuroscience
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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.
    No preview · Article · Jul 2009 · Alzheimer disease and associated disorders
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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.
    Full-text · Article · Jul 2009 · Alzheimer disease and associated disorders

Publication Stats

602 Citations
204.36 Total Impact Points

Institutions

  • 1994-2013
    • Eginition Hospital Athens
      Athínai, Attica, Greece
  • 2011
    • Κωνσταντοπούλειο νοσοκομείο Νέας Ιωνίας (Η Αγία Όλγα)
      Athínai, Attica, Greece
  • 2009-2010
    • Harokopion University of Athens
      Athínai, Attica, Greece
  • 2001-2009
    • National Technical University of Athens
      Athínai, Attica, Greece
  • 2002-2005
    • National and Kapodistrian University of Athens
      • Division of Neurology II
      Athínai, Attica, Greece