Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral imaging identified intracranial calcification in all symptomatic family members. A marked upregulation of interferon-stimulated gene transcripts was recorded in all three affected individuals and in two clinically unaffected relatives. A heterozygous IFIH1 c.2544T>G missense variant (p.Asp848Glu) segregated with interferon status. Although not highly conserved (CADD score 10.08 vs. MSC-CADD score of 19.33) and predicted as benign by in silico algorithms, this variant is not present on publically available databases of control alleles, and expression of the D848E construct in HEK293T cells indicated that it confers a gain-of-function. This report illustrates, for the first time, the occurrence of autosomal-dominant spastic paraplegia with intracranial calcifications due to an IFIH1-related type 1 interferonopathy.

Diversity in anti-N-methyl-D-aspartate receptor encephalitis: case-based evidence.

Antibodies against N-methyl-D-aspartate receptor (NMDAR) are identified in the form of immune-mediated encephalitis in which typical manifestations include neuropsychiatric symptoms, seizures, abnormal movements, dysautonomia and hypoventilation. The authors report two cases of anti-NMDAR encephalitis with different presentations and patterns of progression. The first patient presented with status epilepticus and later developed psychosis, pyramidal signs and diffuse encephalopathy. The second patient presented with acute psychosis followed a week later by seizures, dystonia, rigidity, oromandibular dyskinesias and dysautonomia. Possible mechanisms responsible for the clinical manifestations of this disease are discussed in light of recently described additional clinical and laboratory findings.

Intravenous thrombolysis is more effective in ischemic cardioembolic strokes than in non-cardioembolic? / A trombólise endovenosa é mais eficaz nos acidentes vasculares cerebrais isquêmicos cardioembólicos do que nos não cardioembólicos?

It was suggested that intravenous thrombolysis (IT) leads to larger extent recanalization in cardioembolic stroke. In this work we assess if this has beneficial clinical traduction. METHOD: We evaluated 177 patients undergoing IT, which were categorized into cardioembolic (CE) and non-cardioembolic (NCE). National Institutes of Health Stroke Scale (NIHSS) and modified Rankin scale were compared. RESULTS: The mean age was 67.4±12.01 and 53.8 percent were male. The mean NIHSS was: 14 (admission), 9 (24 h) and 6 (discharge), similar in subgroups. The difference between NIHSS at admission and 24 hours was 4.17±4.92 (CE: 4.08±4.71; NCE: 4.27±5.17, p=0.900) and at admission and discharge there was an average difference of 6.74±5.58 (CE: 6.97±5.68; NCE: 6.49±5.49, p=0.622). The mRS at discharge and 3 months was not significantly different by subtype, although individuals whose event was NCE are more independent at 3 months. CONCLUSION: Ours findings argue against a specific paper of IT in CE. It can result from heterogeneity of NCE group.

Alguns estudos sugerem que a trombólise endovenosa (TE) conduz a melhor recanalização nos acidentes vasculares cerebrais isquêmicos (AVCI) cardioembólicos. Neste trabalho questionamos se isto terá tradução em benefício clínico. MÉTODO: Avaliamos 177 doentes submetidos a TE, os quais foram categorizados como cardioembólicos (CE) e não cardioembólicos (NCE). Compararam-se a National Institutes of Health Stroke Scale (NIHSS) e escala de Rankin modificada. RESULTADOS: A idade média foi 67,4±12,01 e 53,8 por cento eram homens. NIHSS média foi: 14 (admissão), 9 (24 h), 6 (alta), semelhante nos subgrupos. A diferença entre NIHSS à admissão e 24 h foi de 4,17±4,92 (CE: 4,08±4,71; NCE: 4,27±5,17, p=0,900) e entre a admissão e a alta de 6,74±5,58 (CE: 6,97±5,68; NCE: 6,49±5,49, p=0,622). A classificação na mRS não foi significativamente diferente nos subgrupos (alta e 3 meses), mas os doentes com eventos NCE estavam mais independentes aos 3 meses. CONCLUSÃO: Os nossos resultados não documentam um papel específico da TE nos CE, o que pode resultar da heterogeneidade do grupo NCE.

Isolated velopalatine paralysis associated with parvovirus B19 infection / Paralisia velopalatina isolada associada a infecção por parvovírus B 19

A case of isolated velopalatine paralysis in an 8-year-old boy is presented. The symptoms were sudden-onset of nasal speech, regurgitation of liquids into the nose and dysphagia. Brain MRI and cerebrospinal fluid examination were normal. Infectious serologies disclosed an antibody arrangement towards parvovirus B19 that was typical of recent infection. In the absence of other positive data, the possibility of a correlation between the tenth nerve palsy and parvovirus infection is discussed.

Apresentamos um caso de paralisia velopalatina isolada, num menino de 8 anos, que se manifestou por voz nasalada, regurgitação de líquidos pelo nariz e disfagia, de início súbito. A ressonância magnética encefálica e o estudo do líquido cefalo-raquidiano foram normais. O perfil serológico dos anticorpos anti-parvovírus B19 era típico de infecção recente. Na ausência de outros dados positivos, discute-se a possibilidade de uma correlação entre a parésia do X nervo e a infecção por parvovírus.