Robert Fekete

Effect of tetrabenazine on computerized dynamic posturography in Huntington disease patients

BACKGROUND Impairment in computerized dynamic posturography scores has been documented in Huntington disease patients. Tetrabenazine is approved to treat chorea in Huntington disease, but its effect on posturography scores, and balance in general, is unknown. MATERIALS AND METHODS We designed a study to test computerized dynamic posturography performance while taking tetrabenazine and after stopping tetrabenazine for at least three days. RESULTS 10 Huntington disease patients were studied both ON and OFF tetrabenazine. The composite score was statistically different between ON and OFF conditions and both conditions were significantly worse than reference scores. There was no significant difference between ON and OFF trials in the number of falls. A significant improvement on sensory orientation test conditions 3 (sway-referenced vision) and 5 (sway-referenced motion of the support surface and eyes closed) was seen while ON tetrabenazine. Strategy scores 1-3 were also significantly different while ON tetrabenazine. CONCLUSION These findings suggest that tetrabenazine aided patients in gating out of abnormal visual cues when other sensory modalities were available, as well as in gating out abnormal kinesthetic cues when visual cues were not available. It could not help with gating out of simultaneous abnormal visual and somatosensory cues. Thus, tetrabenazine can improve postural stability when one sensory modality is irrelevant, but this effect is not sustained when multiple abnormal sensory modalities are present. This is the first study supporting the use of any medicine to treat balance problems in Huntington disease.

Recognizing uncommon presentations of psychogenic (functional) movement disorders.

Background Psychogenic or functional movement disorders (PMDs) pose a challenge in clinical diagnosis. There are several clues, including sudden onset, incongruous symptoms, distractibility, suggestibility, entrainment of symptoms, and lack of response to otherwise effective pharmacological therapies, that help identify the most common psychogenic movements such as tremor, dystonia, and myoclonus. Methods In this manuscript, we review the frequency, distinct clinical features, functional imaging, and neurophysiological tests that can help in the diagnosis of uncommon presentations of PMDs, such as psychogenic parkinsonism, tics, and chorea; facial, palatal, and ocular movements are also reviewed. In addition, we discuss PMDs at the extremes of age and mass psychogenic illness. Results Psychogenic parkinsonism (PP) is observed in less than 10% of the case series about PMDs, with a female–male ratio of roughly 1:1. Lack of amplitude decrement in repetitive movements and of cogwheel rigidity help to differentiate PP from true parkinsonism. Dopamine transporter imaging with photon emission tomography can also help in the diagnostic process. Psychogenic movements resembling tics are reported in about 5% of PMD patients. Lack of transient suppressibility of abnormal movements helps to differentiate them from organic tics. Psychogenic facial movements can present with hemifacial spasm, blepharospasm, and other movements. Some patients with essential palatal tremor have been shown to be psychogenic. Convergence ocular spasm has demonstrated a high specificity for psychogenic movements. PMDs can also present in the context of mass psychogenic illness or at the extremes of age. Discussion Clinical features and ancillary studies are helpful in the diagnosis of patients with uncommon presentations of psychogenic movement disorders.

Intracranial hemorrhage in patient treated with rivaroxaban.

Rivaroxaban is an oral factor Xa inhibitor used for stroke prevention in atrial fibrillation. There are currently no evidence-based guidelines for the treatment of hemorrhagic side effects of factor Xa inhibitors. We report a case of a thalamic hemorrhage in an 84 year-old right-handed female on rivaroxaban for treatment of atrial fibrillation. The patient had fallen down steps and became unresponsive. She was found to have diffuse scattered acute subarachnoid hemorrhage as well as intraventricular hemorrhage. Neurosurgical intervention was not required in this case, but controversy over decision making to pursue pro-coagulant therapy in the setting of worsening hemorrhage requiring emergent surgery is discussed.

Gradenigo Syndrome: Unusual Consequence of Otitis Media

Introduction: In 1904, Giuseppe Gradenigo published his case series on the triad of ipsilateral abducens nerve palsy, facial pain in the trigeminal nerve distribution, and suppurative otitis media, which would subsequently be referred to as Gradenigo syndrome. Case Report: Our patient was a 36-year-old female, 23 weeks pregnant, with a 6-day history of right-sided otalgia and hearing loss and a 4-day history of purulent otorrhea, who presented with severe, holocephalic headache, meningeal signs, fever, photophobia, and mental status decline. Lumbar puncture yielded a white blood cell count of 1,559 cells/mm3 with 95% polymorphonuclear leukocytes, a red blood cell count of 111 cells/mm3, a protein level of 61 mg/dl, and a glucose level of <40 mg/dl. Cerebrospinal fluid Gram stain showed Gram-positive diplococci, which were subsequently identified as Streptococcus pneumoniae and treated with ceftriaxone. On the second hospital day, she developed horizontal diplopia due to right abducens nerve palsy and right mydriasis. Both symptoms resolved on the third hospital day. Erosion of temporal bone and opacification of mastoid air cells was shown on CT scan. A CT venogram showed an irregularity of the left transverse and superior sagittal sinuses. She was treated with enoxaparin for possible sinus thrombosis. Discussion: This case demonstrates rare but serious sequelae of otitis media and Gradenigo syndrome. Holocephalic headache from meningitis masked trigeminal pain. Involvement of the ipsilateral petrous apex and surrounding structures on imaging and clinical improvement with antibiotic treatment supports Gradenigo syndrome over intracranial hypertension due to venous sinus thrombosis as the cause of the abducens nerve palsy.

Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.

Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS). Case Report: The patient was a 55-year-old woman with a history of mental retardation who developed chorea at age 32 and ataxia at age 37. She had numerous facial scars from 10 prior basal cell carcinoma excisions as well as diminished deep tendon reflexes, bilateral hearing loss, dysphagia, and skin freckling. Brain MRI revealed severe cortical, cerebellar, and brainstem atrophy. Supportive treatment and prevention of further damage from UV light is the mainstay of treatment in XP and DCS. Conclusion: XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers.

Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation.

Olfaction was tested using the 40-item smell identification test (UPSIT; for references see supplementary material online) in an appropriate cultural format for each patient (http://www.sensonics.com). Cognitive function was scored by mini-mental state examination. NBIA patients were enrolled if they were non-demented (MMSE > 24), able to speak and had no nasal pathology. UPSIT scores were compared between controls and patients with NBIA using a multivariate model adjusting for cognition. Post-mortem olfactory bulb tissue from a 56-year-old man with aceruloplasminemia was examined for iron (Perl’s stain; see supplementary material). Olfactory bulb, tract and cortex from 2 pathologically diagnosed NBIA cases (2 female, aged 77 and 65) and Neurodegenerative disorders with brain iron accumulation (NBIA) are a clinically and genetically heterogeneous group of neurodegenerative diseases featuring excessive brain iron deposition [2]. Iron deficient mice display impaired olfactory behaviour and chronic exposure to airborne iron particles is associated with hyposmia [4]. We hypothesised that dysregulated brain iron metabolism in NBIA might be associated with hyposmia. We tested olfactory function in a group of NBIA patients and performed histological examination of olfactory tissue from patients with NBIA and a mouse NBIA model for iron deposition.

Stereotypic Movements in Case of Sporadic Creutzfeldt-Jakob Disease: Possible Role of Anti-NMDA Receptor Antibodies.

Sporadic Creutzfeldt-Jakob disease (sCJD) and anti-NMDA receptor antibody encephalitis (NMDAE) can both produce a rapidly progressive dementia with resulting state of catatonia or akinetic mutism. Both are associated with movement disorders. In published case series, myoclonus appears to be the most frequent movement disorder in sCJD, while stereotypic, synchronized, one-cycle-per-second movements such as arm or leg elevation, jaw opening, grimacing, head turning, and eye deviation are seen in NMDAE. We report a case of a 59-year-old woman with rapidly worsening cognitive disturbance leading to a nearly catatonic state interrupted by stereotypic movements. sCJD was diagnosed via periodic sharp wave complexes on EEG as well as cerebrospinal fluid (CSF) 14-3-3 and tau protein elevation. Characteristic movement disorder of NMDAE was present in absence of ovarian mass or CSF pleiocytosis. Given prior case reports of presence of anti-NMDA receptor antibodies in sCJD, we propose that the movement disorder in this case was caused by anti-NMDA receptor antibodies whose formation was secondary to neuronal damage from prion disease. It is important to consider sCJD even in cases that have some clinical features suggestive of NMDAE.

Renal Failure in Dementia with Lewy Bodies Presenting as Catatonia

Catatonia, originally described by Karl Kahlbaum in 1874, may be regarded as a set of clinical features found in a subtype of schizophrenia, but the syndrome may also stem from organic causes including vascular parkinsonism, brain masses, globus pallidus lesions, metabolic derangements, and pharmacologic agents, especially first generation antipsychotics. Catatonia may include paratonia, waxy flexibility (cerea flexibilitas), stupor, mutism, echolalia, and catalepsy (abnormal posturing). A case of catatonia as a result of acute renal failure in a patient with dementia with Lewy bodies is described. This patient recovered after intravenous fluid administration and reinstitution of the atypical dopamine receptor blocking agent quetiapine, but benzodiazepines and amantadine are additional possible treatments. Recognition of organic causes of catatonia leads to timely treatment and resolution of the syndrome.

Neuro image: Other Babinski sign

88 Neurology India | Jan-Feb 2013 | Vol 61 | Issue 1 the patient would complain that people around him were pinching him. On examination, the patient’s height was 116 cm (<3rd percentile) and head circumference was 54 cm. Ophthalmological examination revealed no papilledema. Both testicular volumes were 2 ml each and puberty staging was Tanner 1. Psychological assessment revealed intelligent quotient (IQ) of 67. Baseline hormone profile showed random growth hormone 0.7(N, 0.5‐ 7.0 ng/ml) and IGF‐1 113.1 (N, 183‐850 ng/ml) with normal thyroid function tests. Magnetic resonance imaging showed a 9 × 8‐cm large suprasellar cyst in the third ventricle with compression of the fornix, corpus callosum, and pons along with enlarged lateral ventricle and obstructive hydrocephalus [Figure 1: Upper panel]. The patient was subjected to endoscopic fenestration of the cyst with ventriculo‐cystocisternostomy. The cyst wall was fulgurated till only a stump remained and the abnormal head movements disappeared immediately after surgery. The patient was re‐evaluated up to 14 months after the surgery. The head bobbing had disappeared permanently. In addition, there was 13 cm height gain, appearance of pubic hair growth, and increase in the testicular volume (15 ml each), features suggestive of pubertal onset. The catch‐up growth of 13 cm over 14 months indicates the recovery of hypothalamic‐pituitary‐growth hormone axis. His aggression and tactile hallucinations had disappeared and his IQ had improved to 90. MRI showed reduction in size of the cyst as well as partial resolution of hydrocephalus [Figure 1: Lower panel].

Altered Fractional Anisotropy in Early Huntington's Disease.

Huntingtons disease (HD) is a dominantly inherited neurodegenerative disease best known for chorea. The disorder includes numerous other clinical features including mood disorder, eye movement abnormalities, cognitive disturbance, pendular knee reflexes, motor impersistence, and postural instability. We describe a mild case of HD early in the disease course with depression and subtle neurological manifestations. In addition, we review MRI and diffusion tensor imaging features in this patient. The bicaudate ratio, a measure of caudate atrophy, was increased. Fractional anisotropy values of the bilateral caudate and putamen were increased, signifying neurodegeneration of these structures in HD.