- Email: [email protected]
INS;associated Parkinson disease
e680
Abstracts / Journal of the Neurological Sciences 333 (2013) e679–e727
Case report: A 54-year-old woman presented with a two-month history of ataxia and left hearing loss. MRI showed an extra-axial tumor arising from the left cerebellar tentorium, measuring 5 cm × 3,7 cm × 2,3 cm, infiltrating the left internal auditory canal and the left foramen lacerum, T2 hyperintense, and T1 isointense, with homogeneous contrast enhancement. This pattern was highly suggestive of a meningioma. The biopsy showed a lymphoid infiltrate, without evidence of B-lymphocyte clonality. The patient improved after incomplete surgical resection and corticoid therapy. She was admitted one year later, for a one-month history of unusual headache, with nausea and vomiting. Brain MRI showed an enhancing tumor of the left tentorium with mass effect. A stereotactic biopsy established the diagnosis of a mucosa-associated lymphoid tissue, a subtype of low-grade marginal zone non-Hodgkin lymphoma (CD 20+, CD3, CD79A). Discussion: This case demonstrated the potential pitfall of imaging findings of dural MALT lymphoma, a rare condition which can lead to a misdiagnosis of meningioma.
doi:10.1016/j.jns.2013.07.2349
Abstract — WCN 2013 No: 1142 Topic: 36 — Other Topic Depression in LRRK2-associated Parkinson disease L. Robbanaa, R. Rafrafia, S. Ben Sassib, Z. El Hechemia, F. Hentatib. Psychiatry F Department, Razi Hospital, Tunisia; bNeurology Department, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia a
Background: The prevalence of the leucine-rich repeat kinase 2 gene (LRRK2) at the PARK8 locus on chromosome 12p11.2–q13 in Parkinson's disease (PD) varies according to the geographical and ethnicity origins. In North Africa it represents about 35.7% of sporadic forms. Depression is one of the most common non-motor symptoms of Parkinson's disease (PD). However the prevalence and the pattern of depression are lacking for LRRK2 (leucine-rich kinase 2)-associated PD patients. Purpose: The purpose of this study was first to describe depression in LRRK2-associated PD patients, secondly to look for the impact of depression on activities of daily living and finally to compare prevalence of depression between LLRK2-associated PD patients and sporadic PD patients. Methods: 40 patients diagnosed with PD-related LRRK2 G2019S mutation and 60 patients with sporadic PD were included in the study. All patients undergoing antidepressant, hypotension, corticoid or anti-tuberculosis treatment were excluded. Depression was screened by the Geriatric Depression Scale-long form. The impact on activities of daily living was assessed by Schwab and England Scale (indexed in UPDRS). Results and discussion: Ninety six patients fulfilled inclusion criteria (thirty patients with PD-related LRRK2 G2019S mutation and sixty-six with PD sporadic form). 23 patients with mutation and 57 with sporadic PD had depression. Our results suggest that depression in PD is associated with increased disease severity and limitations in the activities of daily living but not with the l-dopa dose. Conclusion: The association between depression and PD-related LRRK2 G2019S mutation needs further clarification.
doi:10.1016/j.jns.2013.07.2350
Abstract — WCN 2013 No: 2448 Topic: 36 — Other Topic Psychological patterns of patients with recurrent brain tumor A. Petruzzia, C.Y. Finocchiaroa,b, A. Silvania, A. Botturia, E. Lampertia. a Clinical Neurooncology Unit, Fondazione I.R.C.C.S. Istituto Neurologico ‘Carlo Besta’, Italy; bUniversità Vita-Salute San Raffaele, Milan, Italy Background: Patients with brain tumor are rarely assessed for quality of life and psychological variables and even fewer studies have investigated these features in patients with a recurrence of brain tumors. Objective: The aim of the present study was to investigate the reaction to the illness of patients with recurrent brain tumors. Patients and methods: We enrolled 81 patients with recurrent CNS tumors. Multidimensional aspects of quality of life were assessed through “Functional Assessment of Cancer Therapy-Brain”; “Hospital Anxiety and Depression Scale” and “Psychological Distress Inventory”. KPS was used to evaluate functional status of patients. Results: The distress of our sample was significantly lower than the distress reported in patients affected by other cancer types. All mean Fact-Br sub-scale scores were significantly lower in patients as compared with normative data. There were significantly lower scores in our sample for functional well-being and for social/family well-being than a sample of patients with primary brain tumors. Unexpectedly, emotional well-being mean score was significantly higher in our recurrence sample than in patients with primary brain tumors. The anxiety seems not to be influenced by relapse diagnosis; depression instead was significantly higher than the normative data. Conclusion: The recurrence of a brain tumor can have a major impact on patients' condition and their psychological response than KPS levels. The dissociation between patients' judgment on their quality of life (bad excepted for emotional) and their reported distress (low) is the most intriguing finding, suggesting highly preserved coping strategies in the emotional sphere despite intact judgment and disease awareness. doi:10.1016/j.jns.2013.07.2351
Abstract — WCN 2013 No: 2456 Topic: 36 — Other Topic Hirayama disease and IgA deficiency: An unusual coincidence or a complex syndrome M. Petrovaa, O. Grigorovaa, G. Georgievab, L. Penevb, L. Traykova. a Department of Neurology, Medical University Sofia, Bulgaria; bDepartment of Radiology, City Clinic Sofia, Sofia, Bulgaria Background: Hirayama disease (HD) is a rare lower motor neuron disease. Although various possibilities have been proposed for the etiology of HD, the exiting theories are insufficient. Objective: Here we present the first case of HD in Bulgaria and discuss the pathophysiological, immunological and imaging characteristics of the disease. Patients and methods: The patient had a complete and thorough medical, neurological, neurophysiological (EMG, SSEP, MEP), radiological (3 T MRI), and immunological evaluation. Results: A 21-year-old man presented with a 2-year history of gradual loss of muscle mass and weakness in his left hand extending to the forearm. Neurological examination revealed moderate atrophy and slight weakness of the intrinsic left hand and forearm flexors, as well as slight weakness of some intrinsic right hand muscles. EMG showed chronic neurogenic changes in both hands. Conventional cervical MRI and cervical MRI in the fully flexed position demonstrated typical features for HD. Additionally, immunological tests revealed selective IgA deficiency.
Abstracts / Journal of the Neurological Sciences 333 (2013) e679–e727
Case report: A 54-year-old woman presented with a two-month history of ataxia and left hearing loss. MRI showed an extra-axial tumor arising from the left cerebellar tentorium, measuring 5 cm × 3,7 cm × 2,3 cm, infiltrating the left internal auditory canal and the left foramen lacerum, T2 hyperintense, and T1 isointense, with homogeneous contrast enhancement. This pattern was highly suggestive of a meningioma. The biopsy showed a lymphoid infiltrate, without evidence of B-lymphocyte clonality. The patient improved after incomplete surgical resection and corticoid therapy. She was admitted one year later, for a one-month history of unusual headache, with nausea and vomiting. Brain MRI showed an enhancing tumor of the left tentorium with mass effect. A stereotactic biopsy established the diagnosis of a mucosa-associated lymphoid tissue, a subtype of low-grade marginal zone non-Hodgkin lymphoma (CD 20+, CD3, CD79A). Discussion: This case demonstrated the potential pitfall of imaging findings of dural MALT lymphoma, a rare condition which can lead to a misdiagnosis of meningioma.
doi:10.1016/j.jns.2013.07.2349
Abstract — WCN 2013 No: 1142 Topic: 36 — Other Topic Depression in LRRK2-associated Parkinson disease L. Robbanaa, R. Rafrafia, S. Ben Sassib, Z. El Hechemia, F. Hentatib. Psychiatry F Department, Razi Hospital, Tunisia; bNeurology Department, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia a
Background: The prevalence of the leucine-rich repeat kinase 2 gene (LRRK2) at the PARK8 locus on chromosome 12p11.2–q13 in Parkinson's disease (PD) varies according to the geographical and ethnicity origins. In North Africa it represents about 35.7% of sporadic forms. Depression is one of the most common non-motor symptoms of Parkinson's disease (PD). However the prevalence and the pattern of depression are lacking for LRRK2 (leucine-rich kinase 2)-associated PD patients. Purpose: The purpose of this study was first to describe depression in LRRK2-associated PD patients, secondly to look for the impact of depression on activities of daily living and finally to compare prevalence of depression between LLRK2-associated PD patients and sporadic PD patients. Methods: 40 patients diagnosed with PD-related LRRK2 G2019S mutation and 60 patients with sporadic PD were included in the study. All patients undergoing antidepressant, hypotension, corticoid or anti-tuberculosis treatment were excluded. Depression was screened by the Geriatric Depression Scale-long form. The impact on activities of daily living was assessed by Schwab and England Scale (indexed in UPDRS). Results and discussion: Ninety six patients fulfilled inclusion criteria (thirty patients with PD-related LRRK2 G2019S mutation and sixty-six with PD sporadic form). 23 patients with mutation and 57 with sporadic PD had depression. Our results suggest that depression in PD is associated with increased disease severity and limitations in the activities of daily living but not with the l-dopa dose. Conclusion: The association between depression and PD-related LRRK2 G2019S mutation needs further clarification.
doi:10.1016/j.jns.2013.07.2350
Abstract — WCN 2013 No: 2448 Topic: 36 — Other Topic Psychological patterns of patients with recurrent brain tumor A. Petruzzia, C.Y. Finocchiaroa,b, A. Silvania, A. Botturia, E. Lampertia. a Clinical Neurooncology Unit, Fondazione I.R.C.C.S. Istituto Neurologico ‘Carlo Besta’, Italy; bUniversità Vita-Salute San Raffaele, Milan, Italy Background: Patients with brain tumor are rarely assessed for quality of life and psychological variables and even fewer studies have investigated these features in patients with a recurrence of brain tumors. Objective: The aim of the present study was to investigate the reaction to the illness of patients with recurrent brain tumors. Patients and methods: We enrolled 81 patients with recurrent CNS tumors. Multidimensional aspects of quality of life were assessed through “Functional Assessment of Cancer Therapy-Brain”; “Hospital Anxiety and Depression Scale” and “Psychological Distress Inventory”. KPS was used to evaluate functional status of patients. Results: The distress of our sample was significantly lower than the distress reported in patients affected by other cancer types. All mean Fact-Br sub-scale scores were significantly lower in patients as compared with normative data. There were significantly lower scores in our sample for functional well-being and for social/family well-being than a sample of patients with primary brain tumors. Unexpectedly, emotional well-being mean score was significantly higher in our recurrence sample than in patients with primary brain tumors. The anxiety seems not to be influenced by relapse diagnosis; depression instead was significantly higher than the normative data. Conclusion: The recurrence of a brain tumor can have a major impact on patients' condition and their psychological response than KPS levels. The dissociation between patients' judgment on their quality of life (bad excepted for emotional) and their reported distress (low) is the most intriguing finding, suggesting highly preserved coping strategies in the emotional sphere despite intact judgment and disease awareness. doi:10.1016/j.jns.2013.07.2351
Abstract — WCN 2013 No: 2456 Topic: 36 — Other Topic Hirayama disease and IgA deficiency: An unusual coincidence or a complex syndrome M. Petrovaa, O. Grigorovaa, G. Georgievab, L. Penevb, L. Traykova. a Department of Neurology, Medical University Sofia, Bulgaria; bDepartment of Radiology, City Clinic Sofia, Sofia, Bulgaria Background: Hirayama disease (HD) is a rare lower motor neuron disease. Although various possibilities have been proposed for the etiology of HD, the exiting theories are insufficient. Objective: Here we present the first case of HD in Bulgaria and discuss the pathophysiological, immunological and imaging characteristics of the disease. Patients and methods: The patient had a complete and thorough medical, neurological, neurophysiological (EMG, SSEP, MEP), radiological (3 T MRI), and immunological evaluation. Results: A 21-year-old man presented with a 2-year history of gradual loss of muscle mass and weakness in his left hand extending to the forearm. Neurological examination revealed moderate atrophy and slight weakness of the intrinsic left hand and forearm flexors, as well as slight weakness of some intrinsic right hand muscles. EMG showed chronic neurogenic changes in both hands. Conventional cervical MRI and cervical MRI in the fully flexed position demonstrated typical features for HD. Additionally, immunological tests revealed selective IgA deficiency.