A case of α-synuclein gene duplication presenting with head-shaking movements.

BACKGROUND: PARK4 is a candidate locus for familial Parkinson's disease (PD), combined with multiplication of the α-synuclein gene (SNCA). The eventual phenotype is dependent on the copy number of SNCA. Mutations in leucine-rich repeat kinase 2 (LRRK2) are also causative of parkinsonism. This report describes a man who presented at our hospital complaining of a stagger after running and difficulty in handling the mouse of a personal computer, having suffered tremors since his twenties. Nine months after treatment and discharge, he developed titubation and began to drag his right foot. METHODS: We examined the patient's family pedigree for SNCA dosage, using quantitative polymerase chain reaction. We also screened this pedigree for mutations in parkin and LRRK2, using gene-sequencing techniques. RESULTS: We identified the proband, his sister, and his paternal uncle as carrying a duplication of SNCA. In addition, we found that the proband and his mother carried the G2385R variant of the LRRK2, a strong risk factor for PD in Asians and the rare V1450I variant, although only the proband showed symptoms of parkinsonism. No mutations were found in parkin. CONCLUSIONS: The combination of SNCA gene duplication and LRRK2 G2385R variant may explain the early onset of disease in this patient.

Gabapentin for Kleine-Levin syndrome.

We describe a 17-year-old girl with Kleine-Levin syndrome (KLS), in which gabapentin was effective for the prevention of attacks. (99)mTc-ECD SPECT revealed hyperperfusion of the thalamus and nucleus accumbens presenting in the symptomatic period, suggesting epilepsy-like neuronal discharge from these structures. Treatment for KLS has not been established, although lithium has been used in limited cases with insignificant efficacy. Here, we report a case of recurrent hypersomnia in which gabapentin was effective for the prevention of attacks. We speculate that the recurrent hypersomnia and behaviour disturbance are related to epilepsy-like neuronal discharge from the thalamus due to dysfunction in GABAnergic receptors.

[A case of subacute necrotizing lymphadenitis with recurrent aseptic meningitis 11 years after the first episode].

We report a 29-year-old man with subacute necrotizing lymphadenitis (SNL) associated with recurrent aseptic meningitis following an 11-year remission period. In both episodes, headache and fever were followed by lymphadenopathy, with increased serum IgE level. Although pleocytosis in cerebrospinal fluid was confirmed at admission in the first episode, it appeared at one week after admission in the second episode. Administration of glucocorticoid was effective for treating meningitis. The present case suggests a pathomechanism for SNL that involves both an immunological background and an acute viral infection as triggers of exacerbation of aseptic meningitis.

Parkinsonism in type I Gaucher's disease.

The majority of patients with type I Gaucher's disease never develop neurological signs or symptoms. However, several case reports of Parkinson's disease associated with type I Gaucher's disease have been published, suggesting a genetic link between the two diseases. Hence, detailed clinical investigations are required when the two diseases occur simultaneously, in order to determine whether this is coincidental or whether a true association is present. We present a Japanese man in whom parkinsonism was associated with type I Gaucher's disease. Findings of brain positron tomography (PET) and metaiodobenzylguanidine (MIBG) cardiac scintigraphy are presented.

[A case of isolated hypoglossal nerve palsy probably due to dural arteriovenous fistula].

We report here a case of isolated hypoglossal nerve palsy probably caused by dural arteriovenous fistula (DAVF). A 51-year-old woman was admitted to our hospital complaining headache, tinnitus, and tongue atrophy. Three years before, she first experienced right-sided pulsatile headache and tinnitus which persisted until admission. One week before, she noticed her tongue deviated to right. On admission, physical and neurological examinations showed no abnormal findings except for bruits on right neck and bilateral orbital areas, and atrophy of right tongue. Brain MRI was not remarkable. MRA and conventional angiography disclosed DAVF. We conclude that differential diagnoses for isolated hypoglossal paralysis should include DAVF.

Effect of L-DOPA on nitric oxide production in striatum of freely mobile mice.

In Parkinson's disease, nitric oxide (NO) and other free radicals are thought to be involved in neuronal degeneration. Furthermore, L-DOPA is suggested to have a cytotoxic action on dopaminergic neurons. We studied 24-h NO production and the effect of L-DOPA on this in freely mobile mice using in vivo microdialysis. A microdialysis probe was implanted into the right striatum 12 h before the experiment. This dialysis probe was perfused with Ringer solution for 100 min, then with 20, 50, or 100 nM L-DOPA for 20 min, and finally with Ringer solution. Dialysate fractions were collected every 20 min for 4 h. Production of nitrite and total NO were significantly higher during daytime than during nighttime. Nitrate production was increased significantly by L-DOPA. NO production in the striatum appears to exhibit a diurnal rhythm and to increase with exposure to L-DOPA.

[A study of parasympathetic functions in Guillain-Barré syndrome].

Sympathetic hyperactivity in Guillain-Barré syndrome (GBS) may be due to the involvement of afferent fibers in the vagus and glossopharyngeal nerves within the baroreceptor pathway. Patients with GBS who have increased sympathetic nervous activity, do not, however, always show baroreceptor dysfunction such as orthosatic hypotension. We evaluated parasympathetic nervous activity in patients with GBS to clarity the mechanism of autonomic deficits. An atropine test (20 micrograms/kg intravenous bolus infusion) and hemodynamic functional tests were conducted on 6 patients with GBS (49.5 +/- 13.6 years old) and age-matched healthy controls; 11 controls (50.5 +/- 17.6 YO) for atropine test and 81 controls (48.5 +/- 8.8 years old) for hemodynamic functional tests. I. Parasympathetic nervous activity: (a) Atropine test: (1) Increase in pulse rate after the administration of atropine; the degree was significantly higher in the patients with GBS than that in the healthy controls (p = 0.027). (2) Atropine ratio (= increase in pulse rate following intravenous administration of atropine)/(mean pulse rate before the administration); the ratio was significantly higher in the patients with GBS than that in the healthy controls (p = 0.026). (b) Aschner eyeball pressure test: The degree of reflex bradycardia in the patients with GBS was significantly higher that the in the healthy controls (p = 0.039) II. Sympathetic nervous activity: (a) Cold pressor test: The degree of reflex hypertension was significantly higher in the patients with GBS than in the healthy controls (p = 0.008). (b) 70 degrees passive head-up test: Falls in systolic and diastolic blood pressure in the patients with GBS tended to be lower than in the healthy controls (p = 0.092, p = 0.091). These results suggest that both parasympathetic and sympathetic nervous activities increased, and the baroreceptor function is well preserved in GBS. We thus surmise that increased sympathetic nervous activity in GBS is not explained by reduced inhibition of the parasympathetic nervous activity.