[Response to treatment with corticoids in a case of inflammatory amyloid angiopathy without performing a biopsy]. / Respuesta al tratamiento con corticoides en un caso de angiopatía amiloide inflamatoria sin realización de biopsia.

INTRODUCTION: Inflammatory amyloid angiopathy (IAA) is an infrequent presenting symptom of the recently recognised cerebral amyloid angiopathy and its definitive diagnosis is reached by means of pathological analyses. AIM: We report the case of a male patient with IAA and good clinical, neuropsychological and neuroimaging response to treatment with corticoids; a biopsy of brain tissue was not considered necessary. CASE REPORT: The patient, 68 years old and diagnosed with Alzheimer's disease, suffered from generalised seizures followed by a language disorder and hemiparesis of the right-hand side. A magnetic resonance imaging scan showed a lesion displaying infiltrating behaviour in the left hemisphere and multiple instances of microbleeding. Clinical and radiological features suggested IAA and treatment was established with corticoids. Neuroimaging and neuropsychological tests revealed a notable improvement at 30 days after beginning treatment with immunosuppressants. The genotype was ApoE e4/e4. The need to perform a biopsy of brain tissue was ruled out. CONCLUSIONS: The case described here suggests that, in individualised cases with clinical and radiological features that are characteristic of IAA, it may be possible to establish an empirical treatment with corticoids with a probability diagnosis and perform a biopsy of brain tissue in the event of a lack of response to treatment.

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

BACKGROUND: There is an increasing interest in the clinico-pathological correlation of mutations in progranulin (PGRN) and frontotemporal lobar degeneration (FTLD) complex diseases. We aim to study the PGRN expression variability in patients with different clinical features for a better understanding of its roles in FTLD disease. METHODS: We sequenced the PGRN gene in 72 patients suffering from FTLD (25 familial and 47 sporadic cases) and in 24 asymptomatic at-risk relatives. We also analyzed PGRN expression in blood by quantitative real-time polymerase chain reaction from 37 patients, 8 asymptomatic mutation carriers, and 10 control subjects as well as in brain tissue from 16 patients and 9 control subjects. RESULTS: Four novel mutations were associated with familial and sporadic FTLD and familial dementia associated with amyotrophic lateral sclerosis. We identified a close association between the IVS6-1G>A mutation in PGRN and corticobasal syndrome. Brain tissue was available for carriers of two of the four mutations (IVS6-1 G>A and P357HfsX3). Immunohistochemical analysis revealed ubiquitin- and TDP-43positive and tau/alpha-synuclein negative immunoreactive neuronal intranuclear inclusions. The relative expression of PGRN in the clinical sample was significantly lower in carriers of the IVS6-1 G>A than in control subjects. CONCLUSIONS: Progranulopathies are a major cause of the main phenotypes included in the FTLD complex. According to our results, the level of expression of PGRN in blood could be a useful marker both for diagnostics of part of the spectrum of FTLD conditions and for monitoring future treatments that might boost the level of PGRN in this disorder.

Trimetazidine induces parkinsonism, gait disorders and tremor.

OBJECTIVE: To study the adverse effects of trimetazidine on motor functions. DESIGN: A retrospective study was carried out using electronic records to identify all patients seen between January 1990 and August 2003. SETTING: A neurological out-patient clinic. PARTICIPANTS: Of the 10 258 patients who attended the clinic, 130 received trimetazidine. Treatment with this drug was discontinued in 128 patients. Of the 130 patients treated with trimetazidine, 29 also had other drugs capable of inducing parkinsonism withdrawn from their treatment. MAIN OUTCOME MEASURES: Identification of an improvement in motor function after drug withdrawal. RESULTS: In 56 of the 130 patients who were treated with trimetazidine (43%), an adverse effect on motor function was detected that had been induced or aggravated by one of the withdrawn drugs. Indeed, drug-induced parkinsonism was detected in 20 of these patients. Of these, ten were being treated with trimetazidine only, while the remaining ten were simultaneously receiving other drugs potentially capable of inducing parkinsonism. Treatment with trimetazidine worsened previously diagnosed Parkinson's disease in 12 patients, and gait disorders coupled with disequilibrium was observed in 15 patients. Trimetazidine induced tremor in nine patients. CONCLUSION: Trimetazidine can induce parkinsonism, gait disorder and tremor. These adverse effects have not been previously described for this drug.

Familial prion diseases in the Basque Country (Spain).

In 1995, a surveillance system for prion diseases was set up in the Basque Country, an autonomous region in northern Spain (2.1 million inhabitants). In the period from January 1993 to December 2003, we diagnosed 21 patients with familial prion diseases prospectively and another 4 patients retrospectively. They represent 35% of all the cases referred to the epidemiological registry. Two main possible explanations for this unusual high incidence of familial prion diseases are proposed: first, comprehensive case ascertainment by public health neurologists; second, a probable cluster of the D178N mutation within families of Basque origin related to a still unconfirmed common ancestor. Further genetic and genealogical studies should resolve this issue.