Cerebral atrophy in myotonic dystrophy: a voxel based morphometric study.

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.

Autoantibodies to glutamic acid decarboxylase in downbeat nystagmus.

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.

Satellite potentials on EMG: neurophysiologic evidence of axonal transection in MS?

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.

Natural history of cardiac involvement in myotonic dystrophy: correlation with CTG repeats.

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.

Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease).

Spinal-bulbar muscular atrophy (SBMA) is a rare X-linked neuronopathy associated with an abnormal representation of androgen receptors in the nervous system. Standard nerve conduction and histopathological studies have disclosed the involvement of large myelinated sensory fibers in the spinal nerves of SBMA patients. Little is known about the involvement of small sensory neurons and trigeminal nerves. Laser evoked potentials (LEPs) were studied in 6 unrelated patients with SBMA; 5 of these patients also underwent trigeminal reflex recordings, and 3 a sural nerve biopsy. LEPs were markedly abnormal, indicating a dysfunction in pain pathways. Given the sparing of small fibers in the sural nerve specimens, we hypothesize a dysfunction in spinothalamic cells, possibly due to an abnormal representation of the androgen receptors. Except for the jaw-jerk, all the trigeminal reflexes were markedly abnormal. Since the afferents for the jaw-jerk have their cell body within the central nervous system instead of the ganglion, the selective sparing of the jaw-jerk indicates a trigeminal ganglionopathy.

Early neurologic complications following allogeneic bone marrow transplant for leukemia: a prospective study.

BACKGROUND: 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. METHODS: We prospectively followed 115 consecutive patients having BMT for leukemia, for a median period of 90 days after transplantation. RESULTS: 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). CONCLUSIONS: 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.

Myasthenia gravis in the elderly: a hospital based study.

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.

[The role of adjuvant therapy in the management of pN2 non-small-cell carcinoma of the lung]. / Ruolo delle terapie adiuvanti nel trattamento del carcinoma polmonare non a piccole cellule pN2.

Over a period of eleven years (1983-1993), the role of adjuvant chemo and/or radiotherapy was evaluated on 222 resected patients (pts) with NSCLC at atage IIIA(N2). All the patients underwent an attentive mediastinal limphoadenectomy. Fifty-five patients had a clinical mediastinal node involvement. 174 pts had a single mediastinal node station involved while 48 had two or more stations involved. One hundred and seventy-one pts (77%) underwent adjuvant therapies, consisting of citotoxic chemotherapy in 40 pts, radioterhapy in 97 pts and chemoradioterhapy in 34 pts. Follow-up lasted until September 1994. Overall 5-yr survival was 17.5%, the median being 17 months. Forty-two pts were, at that moment, still living (median 43.5 months, min 11-max 120) with 37 disease free. We verified a significant difference concerning survival among the three histologic types (p = 0.03), with the squamous achieving the best result (21.3% at 5-yrs). Surgical N2 had a better survival (20/5% at 5-yrs) than the clinical one (9%), (p = 0.01). In particular, if only one nodal station was involved, survival was 21.3% compared to 4.5% when metastases were present at two or more nodal station (p = 0.0001). Considering the level of mediastinal node involvement, the worst prognosis was linked to the carina node metastases (p = 0.02). Survival benefits were obtained by means of adjuvant therapies (20/2% vs 8.1%), (p = 0.0002). Analyzing all the pts, the best survival was achieved in those treated by surgery plus chemo-radiotherapy (32.4%), (p = 0.0001). As regards the squamous cell tumors, pts who underwent surgery plus radiotherapy had the best prognosis (24.2%), (p = 0.0026). Further, in non-squamous cell tumor, chemo-radiotherapy increased survival (45%), (p = 0.0001). At multivariate analysis, only the level of nodal involvement and the adjuvant therapy maintained their statistical significance. Our results prompt us to conclude that: 1) Squamous cell tumors and single nodal station involvement are linked to the best prognosis; 2) Squamous cell carcinoma should be treated by adjuvant radiotherapy; 3) Non-squamous tumors should undergo to chemo-radiotherapy; 4) Clinical N2 (according to our recent experience) may benefit from neoadjuvant chemotherapy.

Paramedian diencephalic syndrome.

The clinical characteristics of paramedian diencephalic syndrome (PDS) are described on the basis of two recently observed cases: one with paramedian thalamic infarct, the other with paramedian thalamopeduncular infarct. Analysis of the clinical symptoms and the results of CBF study show that PDS is a complex neurological syndrome characterized by symptoms due to both anatomical lesions and functional disconnections.

Tarsal tunnel syndrome in skiers. Case report.

We describe a case of tarsal tunnel syndrome recently observed in a skier. It is the second case to be reported. Our aim is to stress the relevance of this syndrome to foot pain in these athletes.