Subject(s)
Nystagmus, Pathologic , Speech , Humans , Ataxia/genetics , Calcium Channels/genetics , Mutation , PedigreeABSTRACT
OBJECTIVE: The primary aim of this study was to assess the degree of awareness migraine patients had of their condition. The secondary aims were to evaluate the frequency of an incorrect diagnosis of "cervical arthrosis" in patients unaware of having migraine and to compare the clinical features, diagnostic investigation, and treatment strategies between the 2 subgroups of migraineurs, that is, those with and without the incorrect diagnosis of "cervical arthrosis." METHODS: Patients, between 18 and 65 years, were consecutively referred to 5 Headache Centers in 2 Italian regions for a first visit. They fulfilled the diagnostic criteria for migraine (with/without aura, episodic/chronic) and were enrolled in this cross-sectional study. Each patient underwent a specific cranial/cervical musculoskeletal clinical examination. RESULTS: A total of 117/250 subjects (46.8%) were unaware that they suffered from migraine. In these unaware subjects, the most frequently reported diagnosis was "cervical arthrosis" in 34/117 (29.1%), followed by tension-type headache in 23/117 (19%). The cervical region was the most common site of pain onset in the so-called "cervical arthrosis" group (52.9%, P < .0001), where also more pericranial (58.8%; P = .041) and neck (70.6%; P = .009) muscle tenderness, restricted range of cervical vertical (47.1%; P < .001), and lateral (29.4%; P = .040) movements were reported. More "cervical arthrosis patients" had been referred to an Emergency Department (88.2%; P = .011) and had undergone more cervical spine radiography (23.5%; P = .003) and magnetic resonance imaging (20.6%; P = .044). While they had used fewer triptans (11.8%; P = .007) and received less pharmacological prophylaxis (2.9%; P = .004). CONCLUSIONS: In our sample, there were high misdiagnosis rates for migraine sufferers in Italy. The most common misdiagnosis, that is, "cervical arthrosis," led to misuse of healthcare facilities and had a negative impact on the migraine treatment.
Subject(s)
Diagnostic Errors , Health Knowledge, Attitudes, Practice , Migraine Disorders/diagnosis , Neck Pain/diagnosis , Osteoarthritis/diagnosis , Adolescent , Adult , Aged , Cervical Vertebrae/diagnostic imaging , Cervical Vertebrae/pathology , Cross-Sectional Studies , Female , Humans , Italy , Male , Middle Aged , Migraine Disorders/drug therapy , Tension-Type Headache/diagnosis , Young AdultABSTRACT
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease associated with a positive familial history in 5-10% of ALS cases. Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12%-23% of patients diagnosed with familial ALS. Here we report a novel mutation in exon 4 of SOD1 gene in a 55-year-old ALS patient belonging to a large Italian family with ALS first clinically described in 1968. In the family the clinical presentation was characterized by relatively early age of onset, spinal onset with proximal distribution weakness, bulbar involvement and a rapid disease course. Molecular analysis showed a heterozygous mutation at codon 106 resulting in a substitution of phenylalanine for leucine in the SOD1 protein (L106F). In analogy with the previously reported L106V mutation, we propose that the L106F causes a relevant destabilization of the protein chain around the mutation site, able to affect the SOD1 monomer and dimer structures suggesting a pathogenic role for this novel mutation.
Subject(s)
Alanine/genetics , Amyotrophic Lateral Sclerosis/genetics , Exons/genetics , Phenylalanine/genetics , Superoxide Dismutase/genetics , Adult , DNA Mutational Analysis , Family Health , Female , Humans , Male , Middle Aged , Models, Molecular , Mutation/genetics , Superoxide Dismutase-1ABSTRACT
In this study we evaluated the presence of patent foramen ovale (PFO) in a cohort of 25 consecutive patients suffering from migraine with aura (MA) during an attack presenting to the emergency ward of an Italian hospital. Patients underwent brain magnetic resonance imaging (MRI) with contrast medium, routine coagulation tests, contrast transcranial echocolour-coded sonography (c-TCCS) and transoesophageal echocardiography (TEE). Of the enrolled patients, 88.7% showed a PFO according to the c-TCCS test, whereas only in 72% TEE confirmed the presence of PFO. This discordance could be due to the fact that c-TCCS is more sensitive even with shunts with minimal capacity also located in the pulmonary vasculature. After surgical treatment of the PFO, MA disappeared within two months. Also, the treatment with warfarin as well as with acetylsalicylic acid and flunarizine was able to dramatically reduce the frequency of migraine attacks. These data indicate a higher prevalence of PFO in MA vs. normal population (OR=2.92) and could suggest that the presence of arteriovenous (AV) shunts could represent a trigger for MA attacks as well as for stroke, but more studies are needed to confirm this preliminary hypothesis.
