OBJECTIVE To determine the long term visual and neurological outcome of patients diagnosed with cavernous sinus aneurysms (CCAs). METHODS Prospective follow up for at least five years or until death of 31 retrospectively recruited patients (27 women, 4 men) with treated and untreated CCAs. RESULTS There were 40 aneurysms in all. Mean age at diagnosis was 60.4 years (range 25 to 86; median 6...

OBJECTIVE To test the validity of diffusion tensor imaging (DTI) measures of tissue injury by examining such measures in a white matter structure with well-defined function, the medial longitudinal fasciculus (MLF). Injury to the MLF underlies internuclear ophthalmoparesis (INO). METHODS 40 MS patients with chronic INO and 15 healthy controls were examined under an IRB-approved protocol. Tiss...

We describe a four-generation Italian family with a novel form of juvenile-onset, slowly progressive, autosomal dominant cerebellar ataxia. Eleven affected family members have been evaluated. The mean age at onset was 19.5 years with no evidence of anticipation. The first symptoms were invariably unbalanced standing and mild gait incoordination. Gaze-evoked nystagmus was prominent at onset, whi...

BACKGROUND Ganglioside epitopes on Campylobacter jejuni are hypothesized as the key to the development and characterization of Guillain-Barré syndrome (GBS), but a comprehensive theory has yet to be established. A C jejuni gene, cst-II, involved in the biosynthesis of ganglioside-like lipo-oligosaccharide, shows a polymorphism (Asn/Thr51) that affects ganglioside epitopes. OBJECTIVE To examin...

Abducens palsy (ie, sixth nerve palsy) is the most common single extraocular muscle palsy. The primary symptom is double vision. The treatment goal is to correct the underlying cause. If no cause is identified or the palsy is related to a well-managed chronic disease, treatment consists of patching one eye or applying a temporary prism. We report a patient whose abducens palsy resolved with fou...

mitochondrial disorders (mids) require biochemical or genetic investigations for being diagnosed. in some cases, however, the diagnosis can be suspected upon the syndromic phenotype or upon clinical presentation and family history, as in the following case. the patient was a 74-year-old male admitted for worsening of pre-existing left-sided ptosis and ophthalmoparesis after a birthday party. th...

From lithium it is known that exhibits an anti-Parkinson effect [1]. Accordingly, smokers develop less frequently Parkinson’s Disease (PD) than the non-smoking population [2]. This because tobacco contains a significant amount of [3]. The anti-PD explained by increased autophagy and reduction intracellular a-synuclein Lithium inhibits GSK-3ß consequently increases ß-catenine activity [4]. Devel...

OBJECTIVE To investigate the presence of serum anti-GT1a IgG in Guillain-Barré syndrome (GBS) and its relation to clinical manifestations. BACKGROUND Several patients with GBS and bulbar palsy have been reported to have serum anti-GT1a IgG. Most, however, also have anti-GQ1b IgG. A previous study failed to detect GT1a in human cranial nerves, but GQ1b was abundant in human ocular motor nerves...

BACKGROUND Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over v...

OBJECTIVE Myotonic dystrophy type 1 (DM1) is the most common myotonic disorder. Molecular genetic testing of the Dystrophia Myotonica-Protein Kinase DMPK gene to detect expansion of CTG repeats is confirmatory. TP-PCR (Triplet Primed-Polymerase Chain Reaction) is rapid and effective screening for the CTG repeat expansions in myotonic dystrophy. Indian data regarding clinical and genetic evaluat...