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L P Rowland

Publications and source records attributed to L P Rowland.

At least 19 recordsLinked to original sources
PubMed1992

The first decade of molecular genetics in neurology: changing clinical thought and practice.

Molecular genetics has had a powerful impact on clinical neurology. Definitions of disease are changing from clinical criteria to DNA analysis, resolving questions about the nature of clinically similar but not identical diseases. Genetic counseling is more reliable. Concepts of mendelian inheritance are being tested and new forms of mutation have been discovered to explain anticipation. Nonmendelian forms of inheritance have emerged; concepts of pathogenesis are on a more secure footing; and novel treatments are being explored.

Humans↗
PubMed1992

Melas: an original case and clinical criteria for diagnosis.

We describe the full history and postmortem findings in one of the first identified cases of mitochondrial encephalomyopathy with stroke-like episodes (MELAS). To clarify diagnostic criteria, we analyzed 69 reported cases. The syndrome should be suspected by the following three invariant criteria: (1) stroke-like episode before age 40 yr; (2) encephalopathy characterized by seizures, dementia, or both; and (3) lactic acidosis, ragged-red fibers (RRF), or both. The diagnosis may be considered secure if there are also at least two of the following: normal early development, recurrent headache, or recurrent vomiting. There are incomplete syndromes in relatives of patients with the full syndrome and incomplete syndromes might also be encountered in sporadic cases. Some MELAS patients have features of the Kearns-Sayre syndrome (KSS) or myoclonic epilepsy with ragged-red fibers (MERRF), but none had the full KSS syndrome. In partial or confusing cases, analysis of mitochondrial DNA (mtDNA) may point to the correct diagnosis; however, not all patients with clinical MELAS have had the typical mtDNA point mutation and some patients with the mutation have clinical syndromes other than MELAS.

Brain↗
PubMed1992

Surgical treatment of cervical spondylotic myelopathy: time for a controlled trial.

Surgical procedures on the cervical spine are accepted therapies for the myelopathy of cervical spondylosis. However, reported improvement rates vary widely, and many reports indicate improvement in about one-half of the cases. It has not been proven that outcome after surgery is better than the natural history or conservative therapy. Radiographic or imaging evidence of cord impingement or compression may be seen in asymptomatic people. There are no clear guides to the selection of patients who may benefit from the operation and there has been no standardization of preoperative evaluation, trials of conservative therapy, ascertainment of progressive disability, or assessment of outcome. A multicenter controlled trial might answer these questions.

Cervical Vertebrae↗
PubMed1992

Dystrophinopathy in isolated cases of myopathy in females.

X-linked dystrophinopathy is the most common cause of isolated cases of myopathy in males. To investigate dystrophin abnormalities as a cause of myopathy in girls and women, we used dystrophin immunocytochemistry to study muscle biopsies from 505 girls and women with neuromuscular disease. Forty-six muscle biopsies showed a combination of fibers containing or lacking dystrophin; this mosaic immunostaining pattern denoted a carrier status. Twenty-one of 46 (45.6%) had a family history of Duchenne muscular dystrophy in males. Twenty-five of 46 (54.3%) were isolated cases, with no previous family history of neuromuscular disorder. The laboratory findings of the isolated cases were consistent with the familial cases; all showed myopathic histopathology and abnormal elevations of serum CK. The clinical presentations of the isolated cases varied but were consistent with the familial cases: 40% (10/25) of isolated cases showed proximal limb weakness before age 10, 24% (6/25) presented with myalgias or cramps, 24% (6/25) presented with incidental findings of grossly elevated CK levels, 8% (2/25) noted easy fatigue, and 4% (1/25) had slowly progressive proximal limb weakness beginning at age 45. From our data, the clinical criteria for consideration of an underlying dystrophinopathy in isolated female cases of myopathy are CK levels greater than 1,000 IU/l and myopathic histopathology. About 10% of the isolated cases of hyperCKemic myopathy (25/210) were proven by dystrophin analysis to have a dystrophinopathy as the cause of their disease (manifesting carriers of Duchenne dystrophy). However, we feel that this may be an underestimate. The correct diagnosis in these patients is imperative for appropriate genetic counseling to the patients and their families.

Adolescent↗
PubMed1992

Neurolymphomatosis: a clinicopathologic syndrome re-emerges.

We describe a patient with sensorimotor peripheral neuropathy and cranial neuropathy due to autopsy-proven neurolymphomatosis defined by infiltration of peripheral nerves by tumor cells and review the findings in 39 previously reported patients. The cause of the neuropathy is not known. The association with immune-deficient states suggests virally mediated pathogenesis, possibly a retrovirus.

Adult↗
PubMed1992

Transbronchial lung biopsy. Histopathologic and morphometric assessment of diagnostic utility.

The diagnostic utility of transbronchial lung biopsy (TBB) is partly a function of its size. However, objective parameters that reflect biopsy specimen size have not yet been well-defined. We studied clinical records and histopathologic lung tissue slides of 116 patients who underwent diagnostic TBB, aiming to define the possible significance of association between seven parameters and three categories of pathologic diagnoses. Three of the seven parameters were clinical: age, sex, and chest roentgenographic infiltrates (localized vs diffuse). The remaining four parameters were histopathologic and morphometric: total number of tissue fragments, total number of alveoli (per biopsy specimen), total tissue area (alveolated plus nonalveolated), and lung total area (alveolated tissue alone). The three categories of pathologic diagnoses were as follows: infection, tumor, and nonspecific diagnoses. The nonspecific diagnoses included diagnoses of fibrosis and/or chronic inflammation. The alveoli were microscopically counted by one of us (S.D.G.). The number of biopsy fragments, the total tissue area, and the total lung area were measured in square millimeters by a computer-assisted digitizing system using specific (Bio-Quant) software (R and M Biometrics Inc). The significance of the associations between the seven parameters and the three diagnostic categories were assessed by the chi2 test for association. Overall, the following four possible associations were found to be statistically significant: (1) age--a lower percentage of patients with infection was found among patients with increasing age (p less than 0.001); (2) roentgenographic findings--a greater percentage of tumor diagnoses were found in patients with localized infiltrates (p = 0.006); (3) number of biopsy fragments--a greater percentage of patients with diagnoses of infection was identified among patients whose biopsy specimens contained the highest number of tissue fragments (p = 0.04); and (4) number of alveoli--a greater percentage of diagnosis of infection was made in patients whose biopsy specimens contained greater than or equal to 20 alveoli (p = 0.01). Our findings support the notion that the diagnostic utility of TBB is related to its size. However, this relationship between TBB size and diagnostic utility was apparent only for diagnoses of infection and not for diagnoses of tumor. We conclude that TBB specimens containing 20 or more alveoli may (1) be declared to be adequate for diagnosis, (2) in the appropriate clinical setting, they will be most likely to yield a diagnosis of infection, and (3) the number of alveoli does not appear to be associated to the diagnosis of tumor.

Biopsy↗
PubMed1991

Lymphoma, motor neuron diseases, and amyotrophic lateral sclerosis.

We studied 9 patients with motor neuron disease and lymphoma. The following several observations have not been recognized in the past: (1) Motor neuron syndromes are associated with either Hodgkin's disease or non-Hodgkin's lymphoma. (2) The syndromes are not restricted to lower motor neuron disorders; 8 of 9 patients had definite or probable upper motor neuron signs as well, qualifying for the diagnosis of amyotrophic lateral sclerosis. Corticospinal tracts were affected in both postmortem examinations. (3) The combination of motor neuron disease and lymphoma is often accompanied by paraproteinemia (3 of 7 patients studied), increased cerebrospinal fluid protein content (6 of 9 patients), and cerebrospinal fluid oligoclonal bands (3 of 9 patients). (4) In 2 patients, asymptomatic non-Hodgkin's lymphoma was found only because the discovery of paraproteinemia gave impetus to examine the bone marrow. (5) Patients with both upper and lower motor neuron signs (amyotrophic lateral sclerosis) may show physiological evidence of conduction block in peripheral nerves or autopsy abnormalities in peripheral nerves. The cause of this syndrome is not known. Both lymphoma and motor neuron disease could have a common cause, possibly a retroviral infection. The frequency of paraproteinemia suggests that an immunological disorder may play a role in the pathogenesis of the neurological disorder.

Aged↗
PubMed1991

Polyglucosan body disease.

Adult polyglucosan disease has been described in 15 cases. All had signs of peripheral neuropathy, upper motor neuron signs, and 12 of the 15 had sphincter problems. Dementia was prominent in 8 of 15 cases. We reported 2 cases that contained these clinical features. Electrophysiological studies showed axonal neuropathy. Somatosensory evoked potentials on the second patient were abnormal. Sural nerve biopsy showed clusters of polyglucosan bodies. Although the presence of polyglucosan bodies in biopsy is nonspecific, the number as well as the clinical features are necessary to make the diagnosis. Branching enzyme activity in muscle extracts of the muscles were normal. Hence, a specific enzyme abnormality is not yet known.

Fecal Incontinence↗
PubMed1991

Clinical syndromes associated with ragged red fibers.

Among 40 patients with ragged red fibers in muscle biopsy, all but two met criteria for one of the recognized mitochondrial myopathies: Kearns-Sayre syndrome (6 patients); other ophthalmoplegias (17): MELAS (3); MERRF (2); limb myopathy (5); and exercise intolerance (3). Two patients had MNGIE (mitochondrial myopathy with neuropathy, gastrointestinal symptoms and encephalopathy) and one had spinal muscular atrophy. The myopathy had features of facioscapulohumeral dystrophy in 4 patients. This analysis provides 4 lines of evidence to reinforce the view that, despite occasional "overlap" cases, distinct syndromes can be recognized. First, there are clinical differences. Second, KSS is almost never familial but MELAS and MERRF are often familial. Third, in this series, as in others, all deletions of mtDNA were found in patients with either KSS or non-familial PEO. With a possible single exception, none of the familial cases had KSS and no familial cases included a deletion of mtDNA. Others have found evidence of mtDNA point mutations in MERRF, and maternal inheritance suggests that point mutations will be found in MELAS. Finally, postmortem findings differ in KSS, MELAS, and MERRF. For all of these reasons, we believe it is useful to separate cases on clinical grounds. Deletions and point mutations of mtDNA are becoming defining characteristics of these syndromes.

Adult↗
PubMed1990

X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia.

Kennedy's syndrome, X-linked adult-onset bulbospinal muscular atrophy, has been described in over 30 families. The characteristic distribution of weakness creates a recognizable syndrome, augmented by frequent findings of testicular atrophy and gynecomastia. Type IV or type II hyperlipoproteinemia has been found in some families. We have studied another family with Kennedy's syndrome, this one with hypobetalipoproteinemia. The diversity of serum patterns suggests that lipoprotein abnormalities are not causally related to either the endocrinopathy or the spinal muscular atrophy. However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities.

Adult↗
PubMed1990

Motor neuron disease and amyotrophic lateral sclerosis: relation of high CSF protein content to paraproteinemia and clinical syndromes.

From 1984 to 1988, 11 of 120 patients (9%) with motor neuron disease (MND) had paraproteins detected by serum immunofixation electrophoresis (IFE), compared with 4 (3%) by cellulose acetate gels: 1 patient had progressive spinal muscular atrophy, 5 patients had amyotrophic lateral sclerosis (ALS), and 5 patients had ALS with probable upper motor neuron signs. Four of 5 patients (80%) with cerebrospinal fluid (CSF) protein content above 75 mg/dl had paraproteins, as did 6 of 30 with values above 50 mg/dl. Four of 14 patients with cerebrospinal oligoclonal bands (OCB) also had paraproteins. Two patients with ALS, CSF protein content above 75 mg/dl, and paraproteinemia had lymphoma. We conclude the following about patients with MND: high CSF protein content (especially above 75 mg/dl) or CSF OCB makes paraproteinemia more likely; some of these patients may have lymphoma; there is an inordinately high occurrence of paraproteinemia in MND; and IFE on agarose is more sensitive than electrophoresis on cellulose acetate in detecting paraproteins. Syndromes of paraproteinemia and high CSF protein are not restricted to the lower motor neuron but qualify as "ALS" with coexisting upper motor neuron signs.

Adult↗
PubMed1990

Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy.

We studied monozygous twin women, age 63. One, asymptomatic, had a serum creatine kinase (CK) level of 191 units (normal, 1 to 50); her son died of typical Duchenne muscular dystrophy (DMD) at age 18. Her twin sister had symptomatic limb weakness from about age 40. Her serum CK was 495 units. EMG and muscle biopsy were compatible with myopathy. In the asymptomatic twin, the peripheral blood lymphocyte karyotype was 46,XX. In the affected twin, 18% of cells were 45,X, and the others 46,XX, without X/autosome translocation. DNA analysis did not reveal a deletion at the DMD locus. Immunologic studies of dystrophin showed a partial deficiency of the protein that was more severe in the symptomatic twin. The clinical discordance and the different severity of dystrophin deficiency may have resulted from the effects of lyonization.

Creatine Kinase↗