Barbara Milrod

525 East 68th Street Payne Whitney Clinic New York, NY 10024-3401

In light of new research findings about the efficacy of psychodynamic treatment for panic disorder and agoraphobia, it seems a prudent time to carefully address psychoanalytic thinking about the treatment of agoraphobia. The literature has highlighted oedipal contributions to its genesis and clinical unraveling in psychoanalysis. While those contributions are indeed central to the disorder, structural deficits in the self-representation often become a central focus of treatment once symptomatic remission has been achieved in psychoanalytic treatment. This aspect of the clinical presentation of agoraphobia has not yet been specifically addressed in the psychiatric literature. Some aspects of the phenomenon have been described by psychoanalysts. It is more difficult to treat this "emptiness" than the overt symptoms of agoraphobia, as described in DSM-IV. Nonetheless, this phenomenon may be one of the contributors to the chronicity of the disorder. Two clinical cases illustrate these points.

Idioma: English

Anti-Ma and anti-Ta associated paraneoplastic neurological syndromes: Twenty-two newly diagnosed patients and review of previous cases

L A Hoffmann 1, S Jarius 1, H L Pellkofer 1, M Schüller 1, M Krumbholz 1, F König 2, W Johannis 3, C La Fougere 4, T Newman 5, A Vincent 5 and R Voltz 6*
1 Institute of Clinical Neuroimmunology, Ludwig-Maximilians-University, Munich, Germany, Germany
2 Institute of Neuropathology, University of Goettingen, Germany, Germany
3 Department of Laboratory Medicine, University Hospital, Cologne, Germany, Germany
4 Department of Nuclear Medicine, Ludwigs-Maximilians-University, Munich, Germany, Germany
5 Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, United K, United Kingdom
6 Department of Palliative Medicine, University Hospital, Cologne, Germany, Germany.

Background: Paraneoplastic neurological syndromes (PNS) are indirect remote effects of cancer on the nervous system, often associated with the presence of specific serum antibodies. The most recently described PNS defining reactivity is anti-Ma/anti-Ta. Here we present 22 newly diagnosed patients with anti-Ma or anti-Ta reactivity, refine the associated clinical picture and review all published patients so far.
Patients and Methods: Patients were identified by testing for PNMA1 and PNMA2 antibodies by Western blotting and indirect immunoflurorecence. Clinical data were obtained either by referral of the patient, or from the referring physicians.

Results: Analysis of 22 new patients (14 anti-Ma, 8 anti-Ta ) confirms that anti-Ta are usually found in young men with limbic encephalitis and testicular germ cell tumours who stabilize neurologically with long term survival after tumour treatment. Patients with anti-Ma are of either sex, middle-aged, present with a range of tumours and neurological symptoms and a limited response to treatment. Futhermore, we expand the range of associated clinical features: (1) The peripheral nervous system may be involved. (2) An overlap with anti-Hu is possible. (3) Testicular tumour manifestation can be extragonadal or detectable only at orchiectomy.
Conclusion: Refining and expanding the range of anti-Ma/anti-Ta associated neurological presentations and tumours clearly demonstrate that the distinction between anti-Ma and anti-Ta associated paraneoplastic neurological syndromes is of high clinical relevance.

Idioma: English

Sporadic ALS with early onset respiratory failure is not associated with IGHMBP2 gene mutations

Peter Kühnlein 1*, Anne-Dorte Sperfeld 1, Sonja Endruhn 2, Raymonda Varon 3, Albert C Ludolph 2 and Christoph Hübner 4

1 University of Ulm, Department of Neurology, Germany
2 University of Ulm, Department of Neurology, Germany
3 Charité University Medical School of Berlin, Institute of Human Genetics, Germany
4 Charité University Medical School of Berlin, Department of Neuropaediatrics, Germany
* To whom correspondence should be addressed.

Few distinct motor neurone disease (MND) variants, e.g. familial amyotrophic lateral sclerosis (fALS) and spinal muscular atrophy (SMA) are caused by definitive gene mutations. Within the phenotypic spectrum of the superoxide dismutase gene (SOD1) associated fALS variants, cases showing exclusive involvement of the lower motor neurone (LMN) are known. Furthermore, the SMA group contains heterogeneous diseases mainly characterized by isolated LMN degeneration. From the clinical point of view the distinction between ALS with exclusive or mainly LMN affection and a pure SMA in adult cases is often demanding. Respiratory failure regularly occurs during the course of both entities, and diaphragmatic denervation is present in some cases. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a specific and rare variant of infantile SMA caused by homozygous mutations in the IGHMBP2 gene. Disease onset is usually within the first year of life, but juvenile SMARD1 starts in early childhood. Phenotypic hallmark is the early involvement of the diaphragm. Due to phenotypic similarities in SOD1 associated fALS and SMA we screened a group of 8 sporadic ALS patients, suffering from a predominant LMN syndrome and early respiratory failure in their disease course for mutations in the IGHMBP2 gene. In these samples we could not detect mutations or sequential polymorphisms. This shows that IGHMBP2 gene mutations seem to be a rare cause of this specific phenotype.

Idioma: English