- Simultaneous acute presentation of generalized chorea and subacute combined degeneration secondary to vitamin b12 deficiency. [Journal Article]
- PRParkinsonism Relat Disord 2018 Sep 08
- Ciclosporin and chorea: a new association? [Letter]
- JNJ Neurol 2018 Sep 14
- Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. [Journal Article]
- NeurNeurology 2018 Sep 14
- Nivolumab induced encephalopathy in a man with metastatic renal cell cancer: a case report. [Journal Article]
- JMJ Med Case Rep 2018 Sep 15; 12(1):262
- CONCLUSIONS: The management of less frequent immune-related adverse events has not been fully established and more information is required to provide uniform recommendations. Immune-related encephalitis is a severe and potentially fatal complication requiring immediate hospital admission and extensive immunosuppressive therapy. The examination of cerebrospinal fluid for paraneoplastic antibodies, such as anti-N-methyl-D-aspartate receptor and anti-Ma2 antibodies, in order to distinguish autoimmune etiology from other possible causes is essential and highly recommended.
- Teaching Video NeuroImages: A treatable rare cause of chorea. [Journal Article]
- NeurNeurology 2018 Sep 11; 91(11):e1089
- Movement disorders in autoimmune encephalitis and paraneoplastic neurological syndromes. [Review]
- RNRev Neurol (Paris) 2018 Sep 07
- Movement disorders are extremely common and diverse in autoimmune encephalitis (AE) and paraneoplastic neurological syndromes (PNS). They can sometimes represent the main neurological disorder of a g...
Movement disorders are extremely common and diverse in autoimmune encephalitis (AE) and paraneoplastic neurological syndromes (PNS). They can sometimes represent the main neurological disorder of a given patient, or just be part of a larger neurological syndrome. Early diagnosis of AE or PNS is essential, as the associated abnormal movements can be effectively treated with immunomodulators. Nevertheless, the diagnosis is often delayed because of the large number of differential diagnoses (infections, metabolic disorders, genetic and degenerative diseases) and because the semiology of abnormal movements arising during AE and PNS is often not well known. However, there are highly specific clinical features, depending on the associated autoantibodies, age and gender of the patient, and associated cancers. Such features are likely to rely on specific mechanisms, the knowledge of which could lead to new therapeutic proposals. Also, the growing body of work on AE and PNS provides a better understanding of the links between immunity and neuronal degeneration, and immunity and genetic specificities. Thus, the purpose of this article is to present the current knowledge and different subtypes of movement disorders associated with AE and PNS, as well as the mechanisms that can lead to neuronal dysfunction.
- Athetoid Movements as Initial Manifestation of Primary Sjögren Syndrome. [Journal Article]
- TOTremor Other Hyperkinet Mov (N Y) 2018; 8:573
- Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by exocrine gland and extraglandular symptoms. We present a case report of pSS with an initial presentation of athetoid movement...
Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by exocrine gland and extraglandular symptoms. We present a case report of pSS with an initial presentation of athetoid movements.
- NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. [Journal Article]
- FGFront Genet 2018; 9:335
- Background: NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement ...
Background: NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dystonia and chorea) and endocrinological abnormalities (peripheric thyroid disease, and pituitary hormone deficiencies). Dystonia predominated at the father, and myoclonus at the daughter. The father had hypogonadotropic hypogonadism, while the daughter was treated with growth hormone deficiency. Both patients had empty sella on MRI. Candidate gene analyses were negative. Exome sequencing detected a pathogenic stop variation (NM_003317:c.338G>A, p.Trp113*) in the NKX2-1 gene. Conclusions: This case study has two highlights. (1) It draws attention to possible pituitary dysfunction in brain-lung-thyroid syndrome, and provide further evidences that this might be linked to loss of function of the NKX2-1 gene. (2) It underscores the importance of considering NKX2-1 related disorders in the differential diagnosis of myoclonus dystonia.
- [Paroxysmal dyskinesias - disorder categories, their causes and treatment]. [Journal Article]
- WLWiad Lek 2018; 71(5):1056-1060
- Paroxysmal dyskinesias refer to category of abnormal involuntary movements, such as chorea, dystonia, athetosis, ballism or their various configurations. Depending on the type of seizure, sudden move...
Paroxysmal dyskinesias refer to category of abnormal involuntary movements, such as chorea, dystonia, athetosis, ballism or their various configurations. Depending on the type of seizure, sudden movement, stress, emotions, coffee or alcohol may be the trigger factors. Acute seizures are characterized by short duration and are self-limitated. Patients present correct portray of movements between seizures. Intact consciousness during seizure is the invariable characteristic of all paroxysmal dyskinesias. The intent of this work is to systematize knowledge about paroxysmal dyskinesias. This research includes synthetic information developed based on specialistic literature cencerned with paroxysmal movement disorders. The authors focused primarily on characteristics of the most important issues in this area, into which types of disorders, their causes and treament as well as psychopathology aspect having crucial influence on patients' life comfort were included. The essence of three categories of seizures were put across more extesively: paroxysmal kinesigenic dyskinesia, proxysmal non-kinesigenic dyskinesia and paroxysmal exercise-induced dyskinesia. Primary dyskinesias with genetic basis and secondary to other diseases, such as multiple sclerosis were distinguished. Modes of pharmacological treatment with antiepileptic drug and benzodiazepines were described. Special concern was put on holistic approach to problem of diagnosis and treatment of analyzed movement disorders.
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- Spontaneous Intracranial Hypotension Presenting With Frontotemporal Dementia: A Case Report. [Journal Article]
- FNFront Neurol 2018; 9:673
- Spontaneous intracranial hypotension (SIH) is a rare and often underdiagnosed condition, which commonly results from a cerebrospinal fluid leak. The classic clinical presentation of SIH is a postural...
Spontaneous intracranial hypotension (SIH) is a rare and often underdiagnosed condition, which commonly results from a cerebrospinal fluid leak. The classic clinical presentation of SIH is a postural headache and dizziness. Less frequent complications include nausea, neck stiffness, and even coma. This case report describes a 70-year-old woman with an initial complaint of postural headaches and sleep attacks, who developed a 22-month progressive history of personality and behavioral changes, cognitive decline, urinary incontinence, chorea, and dysarthria. Although no specific cerebrospinal fluid leak was identified, the patient was suspected of having SIH and her symptoms completely reversed after a 2-month course of steroids. This case highlights that SIH represents a rare and reversible cause of a wide spectrum of neurological symptoms, including dementia. Neurologists should be aware of this diagnosis when evaluating patients with neurological signs and symptoms that cannot otherwise be explained.