ABSTRACT
The SCA17 clinical phenotype includes characteristics associated with cerebellar and cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. Here we describe the case of a 38-year-old male presenting with ataxia, cognitive impairment and seizures, who was found to carry 43 repeats on one allele of the TATA-binding protein (TBP) gene. Therefore, genetic analysis of TBP gene triplets was performed on the patient's entire family, identifying three asymptomatic carriers of the same allele. A neuroradiological phenotype appeared to segregate with this allele, suggesting that it may play at least a contributory role in the determination of SCA17.
Subject(s)
Ataxia/genetics , Cognition Disorders/genetics , Seizures/genetics , TATA-Box Binding Protein/genetics , Adult , Alleles , Humans , Male , Pedigree , Phenotype , Trinucleotide Repeat ExpansionSubject(s)
Amyloid beta-Peptides/cerebrospinal fluid , Autoantibodies/cerebrospinal fluid , Cerebral Amyloid Angiopathy/cerebrospinal fluid , Cerebral Amyloid Angiopathy/diagnosis , Peptide Fragments/cerebrospinal fluid , Adult , Aged , Aged, 80 and over , Biomarkers/cerebrospinal fluid , Cerebral Amyloid Angiopathy/pathology , Humans , Inflammation/cerebrospinal fluid , Inflammation/diagnosis , Inflammation/pathology , Male , Middle Aged , Nerve Fibers, Myelinated/pathologySubject(s)
Autoimmune Diseases of the Nervous System/surgery , Graves Disease/surgery , Thyroidectomy , Thyroiditis, Autoimmune/surgery , Allergy and Immunology , Autoimmune Diseases of the Nervous System/diagnosis , Autoimmune Diseases of the Nervous System/immunology , Diagnosis, Differential , Electroencephalography , Graves Disease/diagnosis , Graves Disease/immunology , Humans , Infusions, Intravenous , Iodide Peroxidase/immunology , Magnetic Resonance Imaging , Male , Methylprednisolone/administration & dosage , Middle Aged , Neurologic Examination , Receptors, Thyrotropin/immunology , Recurrence , Thyroiditis, Autoimmune/diagnosis , Thyroiditis, Autoimmune/immunologyABSTRACT
Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.
Subject(s)
Muscular Dystrophy, Oculopharyngeal/diagnosis , Muscular Dystrophy, Oculopharyngeal/physiopathology , Aged , DNA Mutational Analysis/methods , Female , Humans , Italy , Muscle, Skeletal/pathology , Muscular Dystrophy, Oculopharyngeal/genetics , Poly(A)-Binding Protein II/geneticsSubject(s)
Dichloroacetic Acid/therapeutic use , MELAS Syndrome/drug therapy , Adolescent , Brain Ischemia/diagnosis , Brain Ischemia/drug therapy , Brain Ischemia/genetics , DNA Mutational Analysis , Dichloroacetic Acid/adverse effects , Disease Progression , Dominance, Cerebral/physiology , Dose-Response Relationship, Drug , Follow-Up Studies , Humans , Lactic Acid/blood , Long-Term Care , MELAS Syndrome/diagnosis , MELAS Syndrome/genetics , Male , Neuritis/chemically induced , Neuritis/diagnosis , Occipital Lobe/blood supply , Temporal Lobe/blood supply , Tomography, Emission-Computed, Single-PhotonABSTRACT
The typical adult-onset form of Huntington's disease (HD) is a clinical condition in which the latest advances of genetic research can be usefully applied during the course of the diagnostic process; not so clear are the guidelines for the much less frequent late-onset variant. We have recently seen three patients in their late sixties who had been misdiagnosed for up to 10 years due to the apparently isolated, mild, and slowly progressive nature of their hyperkinetic movements or cognitive disorders. Only after the results of DNA sequencing on a blood sample became available could the appropriate diagnosis of late-onset HD be reached. By contrast, neuroimaging studies lacked sufficient sensitivity and specificity. Appropriate neurogeriatric assessment in these cases should follow specific guidelines and should always include selected high-technology procedures.
Subject(s)
Dementia/diagnosis , Huntington Disease/diagnosis , Aged , Brain/pathology , Dementia/genetics , Diagnosis, Differential , Diagnostic Imaging , Female , Humans , Huntington Disease/genetics , Male , Middle Aged , Neurologic Examination , Neuropsychological TestsABSTRACT
One hundred forty-one adult patients treated for no less than 6 months with standard daily doses of the commonest antiepileptic drugs (AEDs) were recruited in five Italian centers and submitted to intensive clinical and electrophysiologic investigation to assess the effects of AEDs on peripheral nerves. Eighty percent of the patients were receiving monotherapy. Carbamazepine (CBZ) was the most common AED (51 cases), followed by phenytoin (PHT) (46), phenobarbital (PB) (42), and valproate (VPA) (25). Fifty-three percent of the patients had one or more symptoms of polyneuropathy (paresthesias being the most common complaint). The neurologic examination was abnormal in 32%. Electrophysiologic findings in two or more separate nerves were abnormal in 77 patients (54.6%); of these, 27 (19.1%) had abnormal neurologic findings and 21 (14.9%) also had symptoms of polyneuropathy. Sensory functions were most frequently impaired. Sural nerve biopsy was performed in 4 patients receiving monotherapy with CBZ, PHT, PB, and VPA. Except in patients receiving VPA (in whom no morphologic abnormalities were detected), mild predominantly axonal damage with secondary myelin changes was noted. A correlation was noted between polyneuropathy, age of the patient and, to a lesser extent, receipt of two or more AEDs.
