Postural instability during attacks of migraine without aura.

BACKGROUND AND PURPOSE: Migraine has long been associated with unsteadiness and dizziness but postural control has not been studied in the ictal state. Here, the stability of upright stance during migraine attacks was measured. METHODS: Static balance was assessed prospectively in migraine patients (n = 30) during quiet stance for 40 s on a posturographic force platform. Recordings were performed both ictally and in the pain-free interval. Subjects were assessed under four different conditions yielding different visual and proprioceptive feedback environments. Both ictal and interictal data were compared with age-matched healthy controls (n = 30). RESULTS: Postural instability increased significantly under all experimental conditions during migraine attacks. Whilst standing on a foam pad with eyes closed, median sway area was 353 mm2 in control subjects, 318 mm2 in migraineurs in the pain-free period and 618 mm2 in the ictal state. However, Romberg and vestibular Romberg quotients were not altered during migraine attacks. Spectral analyses of postural sway also showed similar profiles in migraineurs and controls. The severity of headache was inversely correlated to Romberg quotients. CONCLUSIONS: The demonstrated pattern of balance disorder during migraine attacks suggests a transient cerebellar dysfunction. Our findings also indicate that intense headache induces a re-weighting of sensory processing toward less dependence on visual and proprioceptive information.

Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients.

PurposeEarly onset posterior subscapular cataract (<50 years of age) is a characteristic feature of myotonic dystrophy type 2 (DM2). Nevertheless, despite being operated at a young age, many patients remain undiagnosed for years. The purpose of this study was to assess the prevalence of early onset posterior subscapular cataract as a presenting symptom of the disease in a cohort of patients with DM2.Patients and methodsWe retrospectively reviewed medical records of DM2 patients followed in our institution for the presence of early onset posterior subscapular cataract, of any secondary causes of cataract, of the age of onset of muscle weakness and of final disease diagnosis.ResultsTwenty-eight patients were studied. Nine patients (32.1%) had presented early onset posterior subscapular cataract at a median age of 43 years (IQR=36-46) and seven (25%) reported it was the presenting sign. No patient was referred for neuromuscular evaluation due to the occurrence of early onset cataract. Median delay between cataract onset and referral for neuromuscular evaluation was 10 years (IQR=6.0-19.5) and final DM2 diagnosis was achieved after a median of 16 years (IQR=6.5-19.5).ConclusionThis study shows that early onset posterior subscapular cataract was the first symptom of the disease in 25% of our DM2 patients. Nevertheless, none was suspected of having cataract in the context of DM2, and referral for neuromuscular evaluation was made after a long delay and usually following the appearance of other symptoms. Ophthalmologists can be the first physicians encountering these patients and should have a low threshold for referring them for neuromuscular evaluation.

GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.

BACKGROUND: GNE-myopathy is increasingly diagnosed in different ethnicities worldwide. No clear genotype-phenotype correlation has been established to date. CASE REPORTS: We describe two affected members of the same family from Balkan population carrying an already known homozygous pathogenic mutation in the kinase domain of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamime kinase (GNE) gene. The patients presented with severe distal weakness of lower legs combined with rimmed vacuoles in muscle biopsy. However, in contrast to the typical pattern of muscle involvement, one of them showed severe involvement of posterior calf muscles with spared anterior compartment of the lower leg muscles. CONCLUSIONS: These patients provide evidence for a larger variability and further extend the phenotypic spectrum of GNE-myopathy to include preferential calf involvement.

Αn uncommon coexistence of primary sexual, cough and exercise headaches: the first three cases from Greece.

BACKGROUND: The "other primary headaches" encompasses a group of uncommon but distinct headache disorders. The coexistence of their subforms such as primary sexual and exercise headache is not a new phenomenon, but in association with cough headache is rather uncommon. Report of cases: We report three cases with a rare coexistence of primary cough, exercise and associated with sexual activity headache. Indomethacin was effective in all patients. The leading pathophysiological explanation involves a rapid rise in intra-abdominal pressure exertional factors or an inappropriate reaction in the cerebral vasculature. CONCLUSIONS: Further studies are needed to confirm a common pathogenic mechanism in these patients. Τhe coexistence of these headaches needs to be taken into account in the final classification that is expected to be available in 2016. Hippokratia 2015; 19 (4): 369-371.

Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements.

Glycogen storage disease type II (Pompe disease) affects mainly proximal skeletal muscles. Despite older histological evidence of extraocular muscle involvement, ocular motor palsies or other eye movement abnormalities are not considered part of the clinical picture. We investigated the dynamics of saccadic eye movements of five patients suffering from late-onset Pompe disease and compared their performance to that of age matched healthy controls. Horizontal rightward and leftward saccades were recorded binocularly, while subjects looked at LED targets placed at ±5°, 10° and 15° eccentricities. No differences in saccade amplitudes, peak velocities or durations were observed between controls and patients. More specifically, for 5° saccades, patients had a mean peak velocity of 146°/s with duration of 76ms. For 10° and 15° saccades these values were 258°/s, 86ms and 324°/s, 101ms respectively, thereby lying well within one standard deviation of the mean of normal data. Moreover, saccadic amplitude accuracy was also unimpaired. These results indicate that patients with late onset Pompe disease perform fast and accurate horizontal saccades without evidence of muscle paresis or other ocular motor abnormalities. Reported histological abnormalities of extraocular muscles do not appear to have a phenotypic impact.

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease.

BACKGROUND/AIMS: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to highlight the clinical variability of Pompe disease within siblings suffering from the disease. CASE REPORTS: We report three pairs of siblings with late-onset Pompe disease presenting with different clinical phenotypes within the spectrum of disease phenotypes. CONCLUSION: Clinical manifestations in Pompe disease within the same family can be very different. Clinicians should investigate patients' siblings for symptoms throughout the entire spectrum of the disease in order to avoid delays in the diagnosis and to pick-up mildly affected persons as early as possible, when they can benefit the most from enzyme replacement therapy.

Relationship of intensity and special characteristics of migraine to depressive and anxious features.

Mood and pain are interrelated to each other in a mutual and complex manner. Patient populations in headache clinics exhibit more emotional disturbance than general practice patients. Nonetheless, the degree of psychological illness among headache patients is less than maybe found in psychiatric outpatients. However, it is a fact that several psychiatric disorders appear to be comorbid with primary headache syndromes such as migraine. Still, prospective standardized studies are sparse. We aimed to investigate whether migraine per se or specific migraine characteristics are associated to depression and anxiety. In a single center study (Department of Neurology of the University of Athens) migraineurs were asked for several headache features such as pain intensity, attack frequency, average attack duration, prodromal symptoms and the presence of aura. We assessed 50 consecutive headache patients who were referred to our headache outpatient clinic. Patients diagnosed with non-migraine syndromes, mixed non-migraine and migraine syndromes, or patients with previously diagnosed systemic disease known to precipitate psychiatric disorders (such as systemic lupus erythematodes) were excluded from the study. Furthermore, we did not include any subjects who were already on antidepressive or other psychiatric medication. Twenty four patients met the inclusion criteria. The data were then correlated with scores obtained by the Beck Depression Inventory and the Hamilton's scales for Depression and Anxiety. Our results showed an increased frequency of mild and moderate depression compared to what was expected from the normal population which is in line with past observations on headache patients. In an analogous manner, mild and moderate anxiety appeared more frequently among migraineurs than healthy subjects. However, we did not find any significant relation between depression or anxiety and parameters such as pain intensity, monthly attack frequency, attack duration, presence or absence of aura, appearance of pre-ictal prodromal symptoms and migraine career duration (age of assessment minus age of migraine onset). These findings suggest that migraine, although often comorbid with depression and anxiety, has no specific headache characteristics causally related to mood abnormalities. Larger samples will be required in future studies to address the question of a link between more specific mood and mental disturbances with primary headache syndromes.

Rare association of sensorimotor polyneuropathy and Klinefelter syndrome (47,XXY): case report.

OBJECTIVES: To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy. CLINICAL PRESENTATION AND INTERVENTION: A 50-year-old man with Klinefelter syndrome was referred to our neurology clinic complaining of pain, numbness and tingles in both legs, which began 10 years prior to admission. Two years before admission, the patient had difficulty in walking with progressive weakness. CONCLUSION: This report shows a patient with diagnosed Klinefelter syndrome, in whom symmetrical sensorimotor polyneuropathy developed in late adulthood.

Churg-Strauss syndrome complicated by neuropathy: a clinicopathological study of nine cases.

OBJECTIVE: The purpose of this study was to investigate the clinical, electrophysiological and pathological features of Churg Strauss syndrome (CSS) neuropathy. METHODS: Biopsies were selected from over 700 sural nerve biopsies. The diagnosis of vasculitis was based on established clinicopathological criteria. Complete laboratory, clinical, electrophysiological and pathological studies were performed in all cases. RESULTS: Nerve biopsies of 9 patients were diagnosed as Churg-Strauss syndrome. The pathological features were vasculitis with predominant axonal degeneration and a varying pattern of myelinated fiber loss. The vasculitic changes were found mainly in small epineural blood vessels. Mononeuritis multiplex and distal symmetrical and asymmetrical sensorimotor neuropathy, were equally frequent. CONCLUSION: We conclude that, Churg-Strauss syndrome complicated frequently with polyneuropathy, and as remission depends on immunosuppressive therapy, it is important to recognize it in the early stage. The diagnosis of polyneuropathy is based on clinical and electrophysiologic studies, but precise histology, immunolohistochemistry and morphometric study of the peripheral nerve biopsy may be decisive in establishing the diagnosis.

Stereoanesthesia or astereognosia?

This case attempts to explicit the importance of clinical examination in the differential diagnosis of two similar clinical entities namely astereognosia and stereoanesthesia. The patient presented below involves a multiple sclerosis patient whose symptoms were considered at first to be a case of astereognosia since she mainly complained of an inability to recognize and name the form and nature of objects by touch. However, a thorough clinical examination and the results of neurophysiological and neuroimaging testing demonstrated that it involved a case of stereoanesthesia due to a demyelinating lesion at the cervical region of the spinal cord.

Central motor and sensory pathway involvement in an X-linked Charcot-Marie-Tooth family.

UNLABELLED: The aim of the present study was to investigate the subclinical involvement of the central nervous system (CNS) in an X-linked Charcot-Marie-Toth (CMTX) family. MATERIAL AND METHODS: Seven subjects, all members of one family with a C.462T > G connexin 32 (Cx32) mutation were investigated by Blink reflex, Somatosensory evoked potentials (SEP) and Transcranial magnetic stimulation (TMS). There were five clinically symptomatic for CMT neuropathy (four male and one female) and two asymptomatic (female) subjects. RESULTS: Subclinical CNS involvement was observed in all, symptomatic and asymptomatic subjects. CONCLUSION: This is the largest CMTX neuropathy family investigated for CNS involvement. Electrophysiological involvement of the CNS in every examined member of this family was observed, raising the question of a more systematic involvement of the CNS in CMTX disease.

Incidence and clinical presentation of neurosyphilis: a retrospective study of 81 cases.

Aim of the report was the study of the clinical features of neurosyphilis in the last 40 years (1965-2005). The investigation was based on the retrospective review of patients with neurosyphilis hospitalized in our hospital from 1965 to 2005 (period A: 1965-1984 and B: 1985-2005). Eighty one patients with neurosyphilis were studied. Typical forms represent 68.6% of cases of neurosyphilis in period A. In period B, 85.7% of the cases are presented with atypical clinical patterns. Typical forms of the disease were no longer common, while atypical and masked clinical patterns prevailed. Neuropsychiatric symptoms were the most common manifestations of the disease.

A normative study of the trail making test A and B in Greek adults.

The purpose of this study was to explore the effects of age and education on the performance of the Trail Making Test (TMT), and to provide normative data in the Greek population. The TMT was administered to 643 healthy participants. All participants satisfied the criteria excluding dementia and other medical, psychiatric, and neurological disorders. Statistical analysis revealed that, age, education, and general level of intelligence significantly influence individual performance. Performance on TMT, especially part B, decreases with increasing age and lower levels of education. Current norms of the Greek version of TMT represent a useful set of norms for clinical practice.

Rare association of multiple sclerosis and systemic lupus erythematosus.

Although both multiple sclerosis (MS) and systemic lupus erythematosus (SLE) are relatively common autoimmune disorders, especially in young women and often coexist in families, they are only rarely reported to coexist in a single patient. We here present a case of a young woman with a history of MS from many years who diagnosed as suffering as well from SLE.

The influence of levodopa and the COMT inhibitor on serum vitamin B12 and folate levels in Parkinson's disease patients.

Serum folate and vitamin B12 levels were measured in 67 consecutive Parkinson's disease patients treated either with levodopa + dopa decarboxylase inhibitor (DDC-i) plus catechol-O-methyltransferase inhibitors (COMT-i) or only with levodopa + DDC-i. The data were compared to 67 age-matched controls. Our findings show that levodopa-treated Parkinson's disease patients have low folate (p < 0.0007) and vitamin B12 levels (p < 0.0003). They also demonstrate that the addition of a COMT-i to levodopa + DDC-i treatment causes lower serum vitamin B12 (p < 0.03) and folate levels (p < 0.005) than levodopa + DDC-i treatment alone. We suggest supplementary treatment with vitamin B12 and folic acid in these situations.

Cerebrospinal fluid tau, phospho-tau181 and beta-amyloid1-42 in idiopathic normal pressure hydrocephalus: a discrimination from Alzheimer's disease.

The aim of the present study was the quantitation of total tau protein (tau(T)), tau phosphorylated at threonine 181 (tau(P-181)) and beta-amyloid(1-42) (Abeta42) in the cerebrospinal fluid (CSF) of patients with idiopathic normal pressure hydrocephalus (iNPH), Alzheimer's disease (AD) and controls. Double sandwich ELISAs (Innogenetics) were used for the measurements. Total tau was significantly increased in iNPH and highly increased in AD as compared with the control group, whilst Abeta42 was decreased in both diseases. CSF tau(P-181) levels were significantly increased only in AD, but not in iNPH as compared with the controls. A cut-off level for tau(T) at 300 pg/ml, successfully discriminated AD from normal aging with a 95.8% specificity and 91% sensitivity; whilst the tau(P-181)/tau(T) ratio (cut-off value 0.169) was more specific (100%) but less sensitive (92.5%). For the discrimination of iNPH from AD tau(T) achieved low specificity (77.8%) but high sensitivity (92.5%), whilst tau(P-181) (cut-off value 47.4) was both sensitive and specific (88.7% and 86.7% respectively) for the discrimination of these disorders. The present study, despite being clinical, supports the notion that CSF tau(P-181) alone or in combination with tau(T) may be a useful marker in the discrimination of iNPH from AD.

Associations of the Expanded Disability Status Scale with anxiety and depression in multiple sclerosis outpatients.

OBJECTIVES: We evaluated cross-sectionally the associations of depression and anxiety with age, sex, duration of illness, educational level, degree of disability and treatment with interferon-beta in outpatients with relapsing-remitting multiple sclerosis (RRMS) during a clinically stable phase of their illness. MATERIALS AND METHODS: The depression status scored on the Beck Depression Inventory (BDI), the symptoms of anxiety assessed using the State Trait Anxiety Inventory (STAI) and the level of disability measured by the Expanded Disability Status Scale (EDSS) were quantified in 86 consecutive RRMS patients. RESULTS: Linear regression analyses indicated that EDSS was independently (P < 0.001) associated with BDI and STAI and accounted for 15.7% and 18.5% of the variance in BDI and STAI respectively. The former association retained its statistical significance in multiple regression models adjusting for demographic and clinical characteristics. CONCLUSIONS: Disability status is an independent but moderate determinant of depression and anxiety in MS patients.