Abstract:
:Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficulty in walking and right foot drop. Muscle imaging showed selective fatty degenerative change in the anterior compartment of leg muscles. Her 67 year-old brother, started to show muscle weakness, pain at lower limbs and hypertrophy of calf muscles at the age of 66 years. Their mother began to show foot drop and impaired walking from the age of 60 years. Other relatives are reported to be affected in a similar way. Because the phenotype appeared compatible with TMD, we analyzed the TTN gene in the DNA of the proband and we identified a heterozygous mutation 293326A>C. This mutation is also present in the brother and in the other affected individuals of the same family. The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation. The mutation was not found in 100 Italian control DNA samples. Then, since the introduction of a proline in the last domain of titin was previously known to cause TMD in French families, we can conclude that this missense mutation is the obvious pathogenetic mutation in the affected patients. No other disease causing mutations in the TTN gene have so far been reported in the Italian population.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Pollazzon M,Suominen T,Penttilä S,Malandrini A,Carluccio MA,Mondelli M,Marozza A,Federico A,Renieri A,Hackman P,Dotti MT,Udd Bdoi
10.1007/s00415-009-5372-3subject
Has Abstractpub_date
2010-04-01 00:00:00pages
575-9issue
4eissn
0340-5354issn
1432-1459journal_volume
257pub_type
杂志文章abstract:OBJECTIVES:Resistance to activated protein C (APC) is the most frequent cause of thrombophilia and a well known risk factor for deep and cerebral vein thrombosis. Its causative role in ischaemic stroke is still a matter of debate. We undertook this study to determine the prevalence of APC-resistance in a cohort of cons...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150170117
更新日期:2001-08-01 00:00:00
abstract::Idiopathic hypereosinophilic syndrome (IHES) is a primary haematological condition characterised by persistent, otherwise unexplained hypereosinophilia sufficient to cause organ damage. Various neurological complications are reported, but very few have mentioned CNS pathology and none has included CNS vasculitis. Our ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7720-9
更新日期:2015-05-01 00:00:00
abstract::Demyelination in multiple sclerosis (MS) may cause damage to the vegetative nervous system. Our objective was to examine cerebral autoregulation assessed via blood pressure and cerebral blood flow velocity fluctuations during head-up tilt table testing. We also investigated the effects of high-dose intravenous cortico...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6977-0
更新日期:2013-09-01 00:00:00
abstract::Stiff-person syndrome (SPS) is a rare condition of progressive muscular rigidity and spasm, frequently accompanied by other autoimmune conditions, an association which has been further strengthened by the discovery of anti-GAD antibodies and the response of SPS to immunotherapies. Intravenous immunoglobulin (IVIg) is ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6015-z
更新日期:2011-10-01 00:00:00
abstract::In contrast to other neurodegenerative diseases, sporadic Creutzfeldt-Jakob disease (sCJD) is rarely diagnosed in patients older than 75 years. Data describing the characteristics of sCJD in the very old are rare and inconclusive. Therefore, a historical cohort study was designed to evaluate clinical, cerebrospinal fl...
journal_title:Journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00415-014-7283-1
更新日期:2014-05-01 00:00:00
abstract::Gait variability has potential utility as a predictive measure of dysfunction in Parkinson's disease (PD). Current understanding implicates non-dopaminergic pathways. This study investigated the explanatory characteristics of gait variability in PD on and off medication under single and dual task conditions. Fifty peo...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5789-8
更新日期:2011-04-01 00:00:00
abstract::A total of 15 patients affected by idiopathic dystonia (7 with generalized and 8 with focal or segmental dystonia) were subjected to therapy with bromocriptine at low doses, pimozide and trihexyphenidyl. The symptoms were evaluated by giving a progressive score in relation to the intensity of the dystonic symptom to e...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313391
更新日期:1982-01-01 00:00:00
abstract::The course of multiple sclerosis (MS) can be monitored by measuring changes in brain volume, but consensus is still lacking on the best strategy to be adopted. We compared the reproducibility and sensitivity of volume measurements from different brain portions for detecting changes on magnetic resonance imaging (MRI) ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150070054
更新日期:2000-12-01 00:00:00
abstract::Epileptic syndromes are distinctive disorders with specific features, which when taken together, permit a specific diagnosis. There is actually a debate on that medial temporal lobe epilepsy with hippocampal sclerosis is an epileptic syndrome. To address this issue, we searched for discriminative semiological features...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8441-z
更新日期:2017-05-01 00:00:00
abstract::Untreated sleep disorders may contribute to secondary causes of uncontrolled hypertension, cardiovascular disease (CVD), and stroke. Restless legs syndrome, or Willis-Ekbom Disease (RLS/WED), is a common sensorimotor disorder with a circadian rhythmicity defined by an uncontrollable urge to move the legs that worsens ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-013-7065-1
更新日期:2014-06-01 00:00:00
abstract::A 23-year-old woman had progressive right hemiparesis followed by spontaneous clinical remission. The clinical profile and multifocal contrast-enhancing CT lesions in the periventricular region of the cerebrum favored the diagnosis of an acute demyelinating process. Serial examinations showed resolution of CT abnormal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313759
更新日期:1982-01-01 00:00:00
abstract::Autonomic nervous system (ANS) involvement is frequently found in Parkinson's disease (PD), but its causal relationship to the disease itself and its medication is unclear. We evaluated the effects of PD medications on cardiovascular ANS functions. Heart rate (HR) responses to normal and deep breathing, the Valsalva m...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s004150070075
更新日期:2000-11-01 00:00:00
abstract::The three main immunoglobulin classes obey the basic principles of passive protein transfer at the blood-CSF barrier and the serum-derived portions could therefore be quantified with the help of the permeability marker albumin. The Ig fractions secreted into the CSF by sessile plasma cell clones have been determined i...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313413
更新日期:1982-01-01 00:00:00
abstract::A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A "myopathic" pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312870
更新日期:1976-01-01 00:00:00
abstract::Inborn errors of metabolism in 40 children have been investigated by computed tomography to obtain data on the degree of cerebral involvement in neurodegenerative and storage disorders: 20 children had various mucopolysaccharidoses, 8 sphingolipidoses , 3 mucolipidoses, 2 oligosaccharidoses , 3 ceroidlipofuscinoses an...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313718
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVE:To investigate whether intracranial arachnoid cysts (AC) compromise visual attention and if so, whether surgical cyst decompression leads to improvement in visual attention performance. METHODS:The experiments were carried out on 27 patients with temporal (n=21) or frontal (n=6) AC, and 27 healthy control su...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-006-0280-2
更新日期:2007-01-01 00:00:00
abstract:UNLABELLED:To systematically and comprehensively describe functioning and disability in Multiple sclerosis (MS), practical tools based on the International Classification of Functioning, Disability and Health (ICF), such as ICF Core Sets, are needed. OBJECTIVE:To report on the results of an evidence-based Internationa...
journal_title:Journal of neurology
pub_type: 共识发展会议,杂志文章
doi:10.1007/s00415-011-5963-7
更新日期:2011-08-01 00:00:00
abstract::A boy was suspected of having meningoencephalitis probably of viral origin, although all microbiological, including virological, tests were negative. Postmortem examination revealed a dissecting aortic aneurysm and disseminated intravascular coagulation involving the central nervous system exclusively. The clinical ev...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313465
更新日期:1981-01-01 00:00:00
abstract::Corticospinal lesions cause impairments in voluntary motor control. Recent findings suggest that some degree of voluntary control may be taken over by a compensatory pathway involving the reticulospinal tract. In humans, evidence for this notion mainly comes from StartReact studies. StartReact is the acceleration of r...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9027-0
更新日期:2018-11-01 00:00:00
abstract::Small fibre neuropathy (SFN) has been demonstrated in sarcoidosis. However, a systematic analysis of neuropathic pain and autonomic symptoms, key features of SFN, has not been performed. Clinimetric evaluation of pain and autonomic symptoms using the neuropathic pain scale (NPS) and the modified Composite Autonomic Sy...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5664-7
更新日期:2010-12-01 00:00:00
abstract::The aim of the present study was to assess the efficacy and safety of chronic subthalamic nucleus deep-brain stimulation (STN-DBS) in patients with Parkinson's disease (PD). 18 consecutive severely affected PD patients were included (mean age, SD: 56.9+/-6 years; mean disease duration: 13.5+/-4.4 years). All the patie...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150200059
更新日期:2002-05-01 00:00:00
abstract::The age-related structural changes of the human hippocampus are not entirely understood. The goal of the present investigation was to understand better the nature of age-related hippocampal changes by a comparative MR-analysis of four complementary aspects of hippocampal integrity: total volume, metabolite concentrati...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0540-y
更新日期:2004-11-01 00:00:00
abstract::The computed tomography, magnetic resonance imaging and angiographic findings are described in a patient with Klippel-Trenaunay syndrome, who also had a cerebral haemorrhage from an arteriovenous malformation. The resulting aphasia disappeared completely after resorption of the haemorrhage. In this syndrome, the occur...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313992
更新日期:1986-02-01 00:00:00
abstract::A double-blind, placebo-controlled multicentre study was carried out to evaluate the efficacy and tolerability of 100, 200 and 300 mg sumatriptan, a selective 5-hydroxytryptamine (5-HT)1-like receptor agonist, given in an oral dispersible form in the acute treatment of migraine attacks. A total of 1130 patients were r...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1007/BF01642909
更新日期:1991-01-01 00:00:00
abstract::A 57-year-old male was repeatedly admitted to hospital because of complex neurological symptoms, including radicular pain, disturbance of micturition, seizures, and severely impaired mental state. The diagnosis was encephalomyeloradiculitis possibly of viral origin, and treatment with immunosuppressants was initiated....
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314303
更新日期:1988-01-01 00:00:00
abstract::Multiple system atrophy (MSA) is a rare late onset neurodegenerative disorder which presents with autonomic failure and a complicated motor syndrome including atypical parkinsonism, ataxia and pyramidal signs. MSA is a glial alpha-synucleinopathy with rapid progression and currently poor therapeutic management. This p...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-009-5173-8
更新日期:2009-11-01 00:00:00
abstract::Oculomotor dysfunction in Parkinson's disease (PD) is mainly characterized by a fragmentation of memory-guided gaze shifts (target is reached by several hypometric saccades). Since this phenomenon can also be observed in normal subjects, we scrutinized its pathophysiological significance in PD patients. We recorded ho...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0691-7
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:To investigate possible changes in autonomic cardiovascular regulation and cardiopulmonary baroreflex sensitivity in patients with primary cervical dystonia receiving chronic treatment with botulinum toxin type A. METHODS:Short-term power spectral analysis of heart rate and systolic blood pressure variabilit...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0753-6
更新日期:2008-06-01 00:00:00
abstract::We report a case of polycythemia vera with chorea in which the brain metabolism and dopamine system were investigated using 2-[(18)F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) and (99m)Tc-labeled tropane dopamine transporter ((99m)Tc-TRODAT-1) single photon emission computed tomography (SPECT). Al...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6069-y
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to identify clinical, magnetic resonance imaging (MRI) and biological markers predictive of long-term clinical response to interferon beta (IFN beta) therapy in patients with relapsing-remitting multiple sclerosis (RRMS). METHODS:Sixty-eight patients treated with IFN beta were foll...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-005-0979-5
更新日期:2006-03-01 00:00:00