Sibel Ertan

The interleukin 1 alpha, interleukin 1 beta, interleukin 6 and alpha-2-macroglobulin serum levels in patients with early or late onset Alzheimer's disease, mild cognitive impairment or Parkinson's disease

Alzheimers disease (EOAD, LOAD), mild cognitive impairment (MCI), Parkinsons disease (PD) and healthy controls were included to determine the serum interleukin-1s (IL-1α, IL-1β), IL-6 and alpha-2-macroglobulin (α2M) levels using ELISA. IL-6 might be a significant contributor to the inflammatory response in LOAD. The MCI data indicate that IL-1s, α2M and BDNF are somehow related, and this relationship might allow MCI patients to be more similar to the healthy controls. A correlation analysis of multiple biomarkers in different neurodegenerative disorders might be more useful than determining the levels of a single cytokine in a single disorder.

Relationship between age and subtypes of psychotic symptoms in Parkinson's disease

ObjectivePsychotic symptoms (PS) in Parkinsons disease (PD) usually develop as a side effect of the dopaminergic therapy and consist of hallucinations and delusions. We observed that PD patients who developed delusions tend to be younger than those with hallucinations and we aimed to investigate the validity of this observation.MethodsThe medical records of 127 PD patients with PS were reviewed and 76 patients who were on treatment with dopamine agonists with or without levodopa at the time of developing PS were included. Patients were stratified into 3 groups according to the subtypes of PS: patients with solely hallucinations (n = 46), solely delusions (n = 18), and both types (n = 12). The groups were compared with respect to the age-at-onset of PD and PS, duration of PD, Activities of Daily Living (ADL) and motor subscale scores of Unified PD Rating Scale (UPDRS), and levodopa equivalent dose of the dopaminergic agents administered at the time of PS onset.ResultsThe mean age-atonset of PD and PS was significantly younger (p = 0.0001) in patients with delusions (49 and 55.9 years) than those with hallucinations (61.9 and 68.9 years). The same parameters were also significantly different (p = 0.002 and p = 0.001, respectively) between the groups of patients with concurrent delusions and hallucinations (51.7 and 57.2 years) and those with only hallucinations. ADL and motor subscale scores were higher in patients with hallucinations (p = 0.016 and p = 0.013) compared with those noted in patients with delusions despite similar disease duration. The mean levodopa equivalent doses of the dopaminergic agents administered at the time of onset of PS did not differ between the groups.ConclusionThis study supported an association of delusions with younger onset of both PD and psychosis as compared with hallucinations. However, additional factors related to this association remain to be elucidated.

Progressive motor syndrome in a welder with pallidal T1 hyperintensity on MRI: A two-year follow-up.

Chronic exposure to manganese (Mn) fume during welding may lead to mainly extrapyramidal syndrome that is resistant to treatment. We present a 32‐year‐old patient who developed severe postural instability, Parkinsonism, dystonia, and pyramidal signs in the 10th year of welding. The neurological condition of the patient worsened markedly in the following 3 years, resulting in severe disability rendering him to be assisted in all his daily activities and he did not benefit from any dopaminergic agent. T1 sequences of the MRI of the brain showed pallidal hyperintensity symmetrically. Welders in our country often protect their eyes but ignore to use tools that protect them from inhalation of the fume. Since chronic Mn toxicity may cause serious disability and irreversible neurological disturbances, we strongly believe that it is necessary to inform welders and their employers about this potential hazard.

Clinical characteristics of 49 patients with psychogenic movement disorders in a tertiary clinic in Turkey.

Patients admitted to movement disorders outpatient unit at a university hospital between January 2002 and June 2007 were screened for psychogenic movement disorders (PMDs). Out of 1,743 patients, 49 patients (2.8%), including four children, were diagnosed to have PMDs. Women to men ratio was 34/15. The mean age and the age‐at‐onset were 41 ± 17 years and 36 ± 15 years in the adult group, and 10 ± 2 and 9 ± 2 years in children. Among the whole group, 44% had tremor, 24% dystonia, 12% pure gait disorders, 8% parkinsonism, 6% chorea‐ballism, and 4% tic disorder. PMD developed acutely in 85% of patients, and distractibility was observed in 83%. Of the patients, 81% met the criteria for clinically established PMD, whereas 16% for documented and 2% for probable PMD. Although our data was obtained from a different culture, our results showed that hospital‐based frequency and phenomenological features between our PMD group and previously reported ones are similar.

Apraxia in Parkinson’s disease and multiple system atrophy

Objective:  To determine praxis function in patients with Parkinson’s disease (PD) and multiple system atrophy (MSA).

Assessment of movement time in patients with essential tremor.

BackgroundWe have observed mild bradykinesia in essential tremor (ET) patients, which do not satisfy the criteria of Parkinson’s disease (PD).Objective To compare the mean movement time for repetitive movements around distal and proximal joints in ET patients with normal controls by using a simple test paradigm. Patients and methods Seventeen patients with ET and 14 control subjects were instructed to tap with the index finger sequentially on push–button microswitches. Movement times around metacarpophalangeal, wrist, elbow, and shoulder joints of the right side were tested. The data collected were stored on a computer and the time elapsed between sequential taps on two keys (ms) and number of taps on the left key for 15 seconds were evaluated offline.Results Movement times of the patients with ET were not found to be significantly different from those of the controls at all joints tested despite slight prolongation for movements around the shoulder joint.ConclusionThe simple test paradigm we have used showed that there is no difference in the movement time for repetitive movements around four joints of the upper extremity between patients with ET and normal control subjects. The slightly prolonged movement time around the shoulder joint noted in patients with ET may be ascribed to tremor, not bradykinesia. Tremor may cause these patients to pay more attention to the performance of goal–directed finger movements and consequently prolong movement time slightly or it may simply delay the time elapsed to reach the goal in the absence of overt intention tremor.

Auditory startle reflex and startle reflex to somatosensory inputs in generalized dystonia

OBJECTIVE Startle reflex is a generalized defense reaction after unexpected auditory, visual, or tactile stimuli. Auditory startle reflex (ASR) and startle reflex to somatosensory inputs (SSS) have never been studied in generalized dystonia. Here, we aimed to study the characteristics and changes of ASR and SSS in this group. METHODS We have examined ASR and SSS in patients with generalized dystonia (n=11) and healthy subjects (n=25) under the same conditions. ASRs and SSSs were recorded over the orbicularis oculi (O.oc), sternocleidomastoid, biceps brachii (BB), and abductor pollicis brevis (APB) muscles after bilateral auditory stimulation and unilateral median nerve electrical stimulation at the wrist, respectively. RESULTS Both ASR and SSS showed the same sequence of muscle activation in both groups. However, the presence rates over the APB and BB muscles after both modalities of stimuli were significantly higher in the generalized dystonia group. ASR did not habituate in the dystonia group. CONCLUSIONS Both ASR and SSS are disinhibited, and both show a similar sequence of muscle recruitment in generalized dystonia. SIGNIFICANCE Higher probabilities over caudal muscles probably depend on the higher excitability of motor neurons secondary to central modulation.

FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family

OBJECTIVE FBXO7 mutations (PARK 15), first reported in 2008, are among the monogenic causes of early-onset parkinsonism. Classically, PARK 15 was suggested to correspond to previously described pallido-pyramidal syndrome. Here, we report clinical and genetic findings in a unique family of Kurdish origin with an FBXO7 mutation and presenting with diverse clinical phenotypes. METHODS The family consisted of 14 members (12 offspring) of whom three were affected. Two of these three siblings were examined in our clinic. DNA samples from the index case and his elder sister were subjected to homozygosity mapping and exomic sequencing. RESULTS The index case had progressive speech problems, severe apathy, chorea, and tics at presentation and developed very mild parkinsonism and postural instability after 3 years. His sister had young-onset asymmetric tremor-dominant parkinsonism with some atypical features, such as early development of postural instability, tics, and tachyphemic speech. She died of an akinetic-rigid condition and had not developed chorea. A homozygous R498X mutation was found in both patients (NM_012179; chr22:31,224,440). This result was further confirmed by Sanger sequencing in both patients, their consanguineous parents, and their maternal grandfather; the latter three were found to be heterozygous for the mutation (c.C1492T; p.R498X). CONCLUSIONS The family presented here broadens the clinical spectrum of parkinsonism to include tics and chorea, in addition to the parkinsonian-pyramidal phenotype, in connection with FBXO7 mutations and points to an intrafamilial phenotypic variation.

Partial status epilepticus induced by hypocupremia in a patient with Wilson's disease.

Although seizures are rarely encountered in Wilsons disease (WD), seizures related to hypocupremia have not been reported before. We report a patient presenting with partial status epilepticus who was on strict low-copper diet and chelating therapy for WD. Despite other rare causes of seizures in WD including penicillamine-induced pyridoxine deficiency, cerebral copper deposition and metabolic encephalopathy, the most probable cause of resistant status epilepticus in this patient was found as hypocupremia from overzealous treatment. This case exemplifies that hypocupremic states should be kept in mind as a risk factor for resistant seizures.

Successful pregnancy and delivery in a patient with Parkinson's disease under pramipexole treatment

La Presse Medicale - In Press.Proof corrected by the author Available online since samedi 18 mai 2013