Brain involvement in myotonic dystrophy type 1 (DM1) is characterised by cortical atrophy and white matter lesions. We compared the magnetic resonance imaging derived grey matter maps of 22 DM1 ...patients with those of matched, healthy controls using voxel based morphometry to evaluate the extension of global and regional cortical atrophy in DM1, as well as its relationships with clinical and genetic features. Patients had significantly reduced brain tissue volumes. Grey matter volume was inversely correlated with age; this inverse correlation was significantly stronger in DM1 than in controls. Neither the clinical and genetic characteristics nor white matter lesions were correlated with cortical atrophy. Grey matter atrophy was located mainly in the bilateral frontal and parietal lobes, in the bilateral middle temporal gyrus, and in the left superior temporal and occipital gyrus.
The cause of downbeat nystagmus (DBN) remains undiagnosed in about 40% of patients. This paper reports the presence of antiglutamic acid decarboxylase antibodies (GAD-Ab) in a patient with DBN. ...Antibodies against GABAergic neurons located in the vestibular complex may induce chemical denervation of the floccular neurons, which normally suppress the peripheral imbalance between vertical semicircular canal systems, thereby causing DBN. Testing for GAD-Ab may be indicated in DBN patients without an identifiable anatomical brain lesion.
Bone marrow transplant (BMT) is used for both neoplastic and nonneoplastic diseases. Following BMT, particularly during the first 3 months, patients have a number of neurologic complications. We ...evaluated the early neurologic complications following BMT and their influence on survival.
We prospectively followed 115 consecutive patients having BMT for leukemia, for a median period of 90 days after transplantation.
Sixty-four patients (56%) had neurologic complications. Sixteen developed more than one complication. Twenty-seven patients (25%) had major neurologic complications: metabolic encephalopathy (8), seizures (8), psychiatric symptoms (3), cerebral hemorrhage (1), cerebral abscess (1), leukemic meningitis (1), peripheral neuropathies (5), and myopathies (2). Forty patients (35%) had minor complications, including headache (16) and tremor (31). Major neurologic complications occurred after engraftment in most patients. Metabolic encephalopathy correlated with graft-versus-host disease (GVHD) (p < 0.03). Seven percent of patients had generalized seizures that occurred without signs of structural cerebral lesions. Probability of survival at day 90 was lower in patients with than in those without major central nervous system complications (63% versus 87.5%, p < 0.01).
Neurologic complications are frequent during the first 3 months following BMT and affect patient survival. Drug neurotoxicity and acute GVHD are the main factors influencing their occurrence.
The authors prospectively studied the natural course of cardiac involvement and its relationship to cytosine-thymine-guanine (CTG) expansion in 50 patients with myotonic dystrophy who were submitted ...to periodic cardiovascular EKG and EKG-Holter monitoring during a median follow-up of 56 months. Nineteen patients (38%) developed major EKG changes. CTG length was not correlated with the frequency of EKG abnormalities, but was inversely correlated with the age at onset of EKG abnormalities (p < 0.0001). CTG length influences the timing of cardiac complications in myotonic dystrophy.
To evaluate the health-related quality of life in myotonic dystrophy type 1 and its relationships with clinical, genetic, neuropsychological and emotional factors.
Case-control study of a continuous ...series of patients with myotonic dystrophy type 1.
Twenty patients, and 20 age-, sex- and education-matched healthy controls underwent the MOS 36-Item Short-Form Health Survey (SF-36), an extensive neuropsychological battery and emotional functioning tests.
Patients' SF-36 mean scores were lower than those of controls in all dimensions. The neuropsychological study showed a significant impairment in visuospatial and verbal abstract reasoning (p=0.001), visuospatial memory (p=0.002) and attentive functions (p=0.03) in patients with myotonic dystrophy type 1. The emotional assessment showed significantly high scores in anxiety (p=0.002) and depression (p=0.001), which occurred in approximately 50% of patients. Both physical and mental SF-36 areas were inversely correlated with age, duration and grade of disease, depression and anxiety and positively correlated with attentive control. SF-36 areas were not correlated with cytosine thymine guanidine expansion.
Health-related quality of life is severely impaired in myotonic dystrophy type 1 and it is negatively influenced by severity and duration of disease as well as by specific cognitive deficits and changes in emotional functioning. Therapeutic intervention in this field could contribute to ameliorate health-related quality of life in myotonic dystrophy type 1.
To detect signs of axonal damage in MS, the authors investigated the occurrence in EMG of motor unit action potentials with satellite potentials (SP-MUAP) in the upper limb muscles in 10 consecutive ...patients with MS with cervical spinal cord demyelinating lesions and 10 control subjects. Subjects' SP-MUAP rate was 0 to 2.5% (median 0%) in the control group, and 0 to 17.5% (median 7.5%) in the MS group (p < 0.01). Motor unit remodeling secondary to axonal transection of spinal motor neurons traversing cervical demyelinating lesions may be hypothesized.
To evaluate clinical characteristics and outcome of myasthenia gravis (MG) in aged patients (> 60yrs), we retrospectively reviewed a continuous series of 122 myasthenic patients observed from January ...1968 through December 1994. Patients with congenital, neonatal, or penicillamine-induced myasthenia were excluded. Twenty-five subjects (20%) were > 60yrs. The male/female ratio was 3:2; 20% of patients had an ocular form and 86% were seropositive. Mediastinum CT scan revealed thymic changes in 14%. During the first five years of disease, 60% of patients with ocular form progressed towards a generalized form and 15% had clinical relapses. At the time of their last visit, 40% of patients were asymptomatic and 60% had improved on medication. No patient died because of myasthenia-related causes. This study shows that MG in aged patients is characterized by prevalence in males, low frequency of ocular forms, low frequency of positive mediastinum CT which suggests low frequency of thymomas, high frequency of progression of ocular forms, and good response to corticosteroid therapy.
We assessed the validity of an Italian language version of the Epworth sleepiness scale (ESS). The translated ESS was compared to the multiple sleep latency test (MSLT), considered the gold standard ...for the diagnosis of excessive daytime sleepiness (EDS). Within the context of a multicentric national study on narcolepsy (Gruppo Italiano Narcolessia Studio Epidemiologico Nazionale, GINSEN) involving 17 Italian sleep centres, we compared the two diagnostic tests on 91 prospectively recruited subjects with suspected EDS (34 with narcolepsy, 16 with obstructive sleep apnea syndrome, 19 with idiopathic hypersomnia, and 22 with other sleep, neurologic or psychiatric disorders). ESS scores were inversely correlated with mean sleep latency values, as measured with MSLT (rho = -0.31, p<0.01). ESS cut-off scores with best sensitivity and specificity were 12 and 17. For the 5-min MSLT cut-off, sensitivity was 87% and 47% respectively; specificity 39% and 74%. For the 8-min MSLT cut-off, sensitivity was 84% and 49%; specificity 50% and 88%. The Italian version of the ESS is an easy-to-use form useful for preliminary screening of daytime sleepiness level in specialist settings.
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