Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).

BACKGROUND: The protein "ADP-Ribosylarginine Hydrolase-Like Protein 2" is encoded by ADPRHL2 and reverses ADP-ribosylation. Recently, mutations in ADPRHL2 were found to be associated with a very rare childhood onset severe neurodegeneration syndrome with episodic, stress-induced seizures, ataxia, and axonal neuropathy. In this study, we evaluate a novel mutation in ADPRHL2 leading to an unknown adult onset syndrome "episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome)." DESIGN/METHODS: Four patients with episodic psychosis, ataxia, and motor neuropathy with pyramidal signs were included in this study. RESULTS: An index patient presented ataxia, postural tremor in the hands, and hallucinations at age 20 years, which had started after a viral infection. She improved within 3 months without any treatment. Her neurological exam revealed mild distal weakness, brisk DTRs, bilateral Babinski sign, impaired vibration sensation, position, and ataxia. Pes cavus and hammer toes were also noted. EMG revealed neurogenic changes in distal muscles and normal sensory nerve conduction studies. Cranial MRI was normal. She had three more severe episodes in recent years, and her neurologic findings got progressively worse. Two of her older sisters had much milder phenotypes. The phenotype of the fourth patient from an unrelated family was identical with the index patient. All affected patients had homozygous novel NM_017825.3:c.838G>A (p.Ala280Thr) mutations in a highly conserved region of ADPRHL2. Western blot analyses demonstrated that ADPRHL2 was not expressed in these patients. CONCLUSIONS: Here, we describe a novel mutation in ADPRHL2, which further expands the phenotypic and genetic spectrum of the patients harboring these mutations.

Using personality disorders to distinguish between patients with psychogenic nonepileptic seizures and those with epileptic seizures.

Identifying psychiatric disorders rather than psychiatric symptoms might help to distinguish patients with psychogenic nonepileptic seizures (PNES) from those with epileptic seizures (ES). Patients with PNES (n=35), patients with ES (n=35), and healthy controls (n=37) were compared with respect to the prevalence of psychiatric disorders in this study. We tested the predictive power of having axis I psychiatric disorders, as well as personality disorders, in distinguishing ES from PNES. There was no significant difference between the patient groups in the prevalence of axis I psychiatric disorders. Personality disorders were more prevalent in the PNES group than in the ES group (P<0.05). Having a personality disorder was the only predictor for the PNES group. Having a personality disorder seems to be a more significant predictor for PNES than having an axis I psychiatric disorder. Greater attention should be paid to personality disorders in the differentiation of PNES and ES and the provision of effective treatment.

Turkish inappropriate medication use in the elderly (TIME) criteria to improve prescribing in older adults: TIME-to-STOP/TIME-to-START.

PURPOSE: To improve prescribing in older adults, criterion sets have been introduced from different countries. While current criterion sets are useful to some extent, they do not meet the need in some European countries. Turkish inappropriate medication use in the elderly (TIME) criteria was planned to meet this need. METHODS: In phase 1, the user friendly sets: STOPP/START version2 and CRIME criteria were combined. National experts composed of geriatricians and non-geriatricians were invited to review and comment. In phase 2, thorough literature review was performed and reference-based revisions, omissions, and additions were made. Explanatory additions were added to some criteria to improve application in practice. In phase 3, all working group members reviewed the criteria/explanations and agreed on the final content. RESULTS: Phase 1 was performed by 49 expert academicians between May and October 2016. Phase 2 was performed by 23 working group academicians between October 2016 and November 2018 and included face-to-face interviews between at least two geriatrician members and one criterion-related specialist. Phase 3 was completed between November 2018-March 2019 with review and approval of all criteria by working group academicians. As a result, 55 criteria were added, 17 criteria were removed, and 60 criteria were modified from the first draft. A total of 153 TIME criteria composed of 112 TIME-to-STOP and 41 TIME-to-START criteria were introduced. CONCLUSION: TIME criteria is an update screening tool that differs from the current useful tools by the interactive study of experts from geriatrics and non-geriatrics, inclusion of practical explanations for some criteria and by its eastern European origin. TIME study respectfully acknowledges its roots from STOPP/START and CRIME criteria. Studies are needed whether it would lead improvements in older adults' health.

A comparative study of obsessive-compulsive disorder and other psychiatric comorbidities in patients with temporal lobe epilepsy and idiopathic generalized epilepsy.

Our aim was to assess the associations of temporal lobe epilepsy (TLE) and idiopathic generalized epilepsy (IGE) with comorbid psychiatric conditions, especially obsessive-compulsive disorder (OCD), in a comparative design. We evaluated 29 patients with TLE, 27 patients with IGE, and 30 healthy controls. The Structured Clinical Interview for DSM-IV (SCID), Yale-Brown Obsessive Compulsive Scale (Y-BOCS) Symptom Checklist, and Beck Depression Inventory (BDI) were administered. Among patients with TLE, 75.9%, and among patients with IGE, 48.1% had at least one Axis I psychiatric disorder. Clinically meaningful obsessive-compulsive symptoms (CM-OCS) were noted in 10 patients with TLE and in 3 patients with IGE, and this difference was statistically significant (P<0.05). CM-OCS were present in 9 of 18 patients with left-sided TLE, but in only 1 of 11 patients with right-sided TLE. Higher comorbidity in TLE suggests that involvement of the temporal lobe may play a role in the development of specific psychopathological syndromes.

Mood and anxiety disorders in patients with myasthenia gravis: aetiology, diagnosis and treatment.

Myasthenia gravis (MG) is a chronic, autoimmune disease involving neuromuscular junctions. It is frequently associated with symptoms such as loss of muscle strength, difficulty in respiration and swallowing, diplopia and ptosis. All chronic diseases, including MG, may have psychiatric consequences in terms of coping and adaptation. Psychiatric morbidity usually appears as anxiety disorders, such as panic disorder and generalised anxiety disorder, and as depressive disorders. However, there are very few data on the prevalence and aetiology of such psychiatric symptoms in patients with MG, and those available in the literature are generally from old studies with poor methodology. The interaction between MG and psychiatric disorders needs to be appreciated, especially in the primary care setting, since the symptoms may overlap. MG may be under-recognised initially because the psychiatric symptoms may coincide with those of the actual disease, such as fatigue, lack of energy and shortness of breath. On the other hand, co-morbid psychiatric symptoms that appear during the course of the illness may be misdiagnosed as true myasthenic symptoms; thus, leading to unnecessary drug treatment. Differentiation of the aetiology of these symptoms might alter the treatment choice and, therefore, affect the treatment success rate and patients' well-being. Psychiatric treatments must be carefully planned because of the risk of aggravating the underlying neurological disease. Even though there appears to be an intricate relationship between MG and psychiatric symptoms, there is very limited information on this subject. As such, prospective, randomised, controlled pharmaco/psychotherapy studies are needed to better direct the management of patients and, thus, improve quality of life during the course of the illness.

The efficacy of mirtazapine in agitated patients with Alzheimer's disease: A 12-week open-label pilot study.

Agitation is one of the most devastating behavioral symptoms in demented patients but there is little evidence about effective and safe pharmacotherapy. We aimed to determine the effectiveness and safety of mirtazapine in treatment of agitated patients with Alzheimer's disease (AD). The consecutive patients with AD who have significant agitation were assigned to a 12-week open-label, prospective study. Patients received mirtazapine 15-30 mg/day. The changes in Cohen-Mansfield Agitation Inventory-Short form (CMAI-SF) scores were primary outcome measurement. The change in Clinical Global Impression-Severity scale (CGI-S) scores and tolerability-safety profile were the secondary efficacy variables. Thirteen of 16 (81.25%) patients completed the study. There was a significant reduction in CMAI-SF and CGI-S between the pre- and post-treatment with mirtzapaine (p < 0.001). The mean baseline score was 26.54 ( +/- 5.4) and mean reduction was 10.6 ( +/- 7.5) in CMAI-SF. There was no significant side effect and cognitive deterioration. The results of this open-label pilot study suggest that mirtazapine may be an effective choice for treatment of agitated patients with AD.

An unspecified clinical syndrome in mentally retarded patients with bilateral mesial temporal sclerosis.

PURPOSE: The association of febrile convulsions and mesial temporal sclerosis (MTS) is a well-known phenomenon. However, the effects of mental retardation on febrile convulsions and MTS have not been investigated previously. The aim of this study is to investigate the relation of mental retardation to febrile convulsions especially as febrile status epilepticus and MTS. METHODS: We describe three patients who have bilateral mesial temporal sclerosis with mental retardation and a history of febrile status epilepticus (FSE), and have clinically typical mesial temporal lobe epilepsy (MTLE). RESULTS: The FRSB and neuropsychology test revealed executive dysfunction in patients whose bilateral MTS had a benign course, which was unexpected. CONCLUSIONS: Febrile status epilepticus might have a role in the development of their mental retardation. This study also pointed out that MTS might have subtypes as a result of our attempts at distinguishing patients with MTS.

Unrecognized depression in community-dwelling elderly persons in Istanbul.

OBJECTIVE: Depression, one of the most prevalent psychiatric disorders, causes disability and reduces quality of life. Rates of clinical depression in community samples of older adults range between 1-16%. Most studies of old age depression have been conducted in developed countries. The present study was conducted to determine the prevalence of depressive disorders among Turkish elderly in an urban community. METHOD: This study was carried out in the Kadiköy district of Istanbul. The sample for the cross-sectional part of the study was 1067 individuals age 70 or older, randomly selected from population registries. Geriatric Depression Scale (GDS), Mini-mental State Examination (MMSE) scores and demographic data were obtained by face-to-face home interviews. The data were analyzed using regression analysis for each variable. RESULTS: The study group consisted of 623 (61%) females and 395 (39%) males. The mean age was 74.8 years, with 63% of subjects aged 70-74, 29% between 75-84 years old and 8% aged 85 and above. Sixteen percent (n = 163) of the total group scored 14 or higher on the GDS. Only 9% of the depressed group were on antidepressant medication. Logistic regression analysis indicated that significant predictors for higher scores GDS scores were: illiteracy, aged 75-79 yrs, female sex and having 4 or more children. CONCLUSION: Depression is a common but unrecognized and thus untreated problem among the elderly population in Turkey. While gender and age are unmodifiable, education level and multiparity can be altered. Education of caregivers and medical staff about old age depression may increase its rate of detection and facilitate improved treatment.

Obsessive-compulsive disorder after epilepsy surgery.

It is a well-known fact that after epilepsy surgery (ES) preexisting psychopathology may deteriorate or de novo psychopathological syndromes, mainly of a depressive and psychotic nature, may appear. Previously, recovery of obsessive-compulsive disorder (OCD) after ES has been reported in patients who had comorbid OCD preoperatively; however, there have been no reports on the appearance of de novo OCD interfering with daily living activities post-ES. This is the first report of OCD after ES in patients with mesial temporal lobe epilepsy (MTLE). Five patients with MTLE were identified with obsessive personality traits before surgery. Within the first 2 months after ES, two of these MTLE patients fulfilled OCD diagnostic criteria. These OCD patients were not any different from the other three patients with respect to age, age of onset of epilepsy, seizure types, and seizure frequency. All patients stopped having seizures postoperatively, but the OCD patients had worse quality of life postoperatively than preoperatively. Our findings show that those patients with obsessive traits preoperatively should be carefully monitored after ES.