Female neurogenic sexual dysfunction secondary to clitoral neuropathy.

We herein present several cases of female sexual dysfunction related in part to organic neurologic pathophysiology. These cases emphasize the role of the central and peripheral nervous systems in female sexual function.

Omental transposition for cerebral infarction: a 13-year follow-up study.

BACKGROUND: During the past decade there has been increasing use of omental transposition to the brain of patients who experienced neurologic sequelae after a cerebral infarction. This paper reports the long-term neurologic effects seen in a patient who underwent omental transposition 31 months after a stroke. Her postoperative follow-up period has been 13 years. CASE DESCRIPTION: The patient had an expressive aphasia, a right hemiparesis and the inability to read which occurred immediately after her stroke. After surgery she demonstrated subjective and objective improvement in her speech and mobility. She also regained her ability to read shortly after surgery. CONCLUSION: The patient demonstrated that omental transposition to the brain can improve neurologic function in the presence of a long-standing cerebral infarction and that the clinical improvement can be maintained over an extended period.

Evidence of cortical metabolic dysfunction in early Huntington's disease by single-photon-emission computed tomography.

We compared perfusion of prefrontal, motor, and sensory cortices and basal ganglia in 29 Huntington's disease (HD) patients and nine controls. We found a significant reduction in perfusion in patients with HD of short (< 6 years, n = 10), medium (6-10 years, n = 8), and long duration (> 10 years, n = 11) compared with controls. Among short-duration patients, we observed decreases in cortical perfusion before evidence of atrophy on magnetic resonance imaging, suggesting that decreases in neuronal activity, as reflected by perfusion levels, precede gross structural changes. As expected, decreased perfusion was marked in basal ganglia. The extent of cortical perfusion correlated with clinical assessments of functional capabilities as well as with the duration of disease. Prefrontal perfusion correlated with cognitive measures, and motor cortical perfusion correlated with physical disability and activities of daily living scores. We found no significant clinical correlations with sensory cortical perfusion. Single-photon-emission computed tomography may be a sensitive method for assessing disease progression in clinical trials and pharmacologic intervention.

Lack of hepatotoxicity with naltrexone treatment.

Naltrexone, a specific opiate receptor antagonist, is used clinically in the treatment of heroin addiction and more recently, for the treatment of dyskinesia associated with Huntington's disease (HD). Naltrexone may act as a potential hepatotoxin, as reflected in the elevation of transaminase levels. However, one study concluded that, for a brief treatment period of 12 weeks, there is no contraindication to naltrexone treatment based solely on increased hepatic enzyme values. This study monitored liver transaminase levels, in ten HD patients receiving daily doses, between 50 mg/day and 300 mg/day, of naltrexone for periods of 10 to 36 months. Serum glutamic oxalacetic transaminase (SGOT) and serum glutamic pyruvic transaminase (SGPT) levels were obtained before treatment and at intervals of 1 to 4 months during treatment. Only one of the ten patients treated with naltrexone had increased levels of both SGOT and SGPT, whereas one other patient showed elevated levels of SGPT. These elevations, which initially appeared dose related decreased to normal limits with continued treatment. Because many of the patients were receiving other medications, a combination of drugs with naltrexone may contribute to the increased transaminase levels seen in two of the patients. In summary, chronic administration of naltrexone in doses up to 300 mg/day for periods up to 36 months does not significantly change hepatic function, as measured by SGOT and SGPT levels.

Factors associated with slow progression in Huntington's disease.

The rate of disease progression was assessed for 42 persons affected by Huntington's disease who had been neurologically examined at least six times and followed up for at least 3 years. Disease progression was assessed by a disability rating scale administered at each examination. Slow progression was associated with older age at onset of disease and with heavier weight (body mass index) at the first examination. Men tended to have a slower disease progression than did women, and this was particularly evident among men inheriting Huntington's disease from affected mothers. Neither the butyrophenone haloperidol nor the tricyclic antidepressant imipramine were related to rate of progression. Assessments of depression, hostility, and tobacco use were also unrelated to rate of progression. Clinical trials in Huntington's disease should consider these factors when designing therapeutic studies.

Relation of distribution of conduction velocities to nerve biopsy findings in n-hexane poisoning.

Distribution of conduction velocities (DCV) of sensory fibers in sural nerve was investigated in three patients with n-hexane poisoning. Measurements were made at 1-2 months, 4-9 months, and at 11, 23, and 36 months after ending exposure. A sural nerve biopsy was obtained from one of the patients. The results indicated the characteristic changes of n-hexane toxicity: myelinated nerve fiber degeneration and paranodal swelling, resulting in changes in the fiber diameter distribution. The DCV documented these changes. After removal from toxic exposure, varying degrees of recovery were studied clinically and evaluated with nerve conduction parameters. The DCV reflects the pathological changes in nerve in toxic neuropathy due to n-hexane.

Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4.

Variability of expression of the Huntington's disease (HD) gene is illustrated in 2 families with linkage of DNA restriction fragment length polymorphism to the short arm of chromosome 4. In 1 family, affected persons from 3 generations show 50-year variation of onset age. The member with the latest onset age (67) died at 91 with autopsy-confirmed HD. The next generation had hypotonic chorea beginning in the 4th decade with death in the 5th. In the 3rd generation, a rigid patient, inheriting the illness from an affected father, had a much earlier onset at 16, while her siblings had chorea beginning in the 3rd decade. In the 2nd family, several members had cerebellar signs, chorea, and dementia. MRI and CT revealed olivoponto-cerebellar and striatal atrophy. These phenotypes may be the result of different allelic genes at the HD locus or unlinked autosomal modifying loci influencing the expression of the HD gene.

Late onset of Huntington's disease.

Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years. Approximately 25% of persons affected by Huntington's disease exhibit late onset. A preponderance of maternal transmission was noted in late-onset Huntington's disease. The clinical features resembled those of mid-life onset Huntington's disease but progressed more slowly. Neuropathological evaluation of two cases reveal less severe neuronal atrophy than for mid-life onset disease.

Vesico-urethral function in Huntington's chorea.

Six patients with Huntington's chorea (5 females, 1 male) underwent neuro-urological evaluation because of urological complaints, usually incontinence. Four patients had detrusor hyperreflexia with a normal sphincter and two patients had a normal study, suggesting that their incontinence might be non-organic. A characteristic urodynamic pattern, not previously described, was observed, consisting of choreiform contractions of the abdominal perineal floor muscles during filling with selective suppression of choreiform contractions in the perineum during detrusor contraction.

Increased rate of suicide among patients with Huntington's disease.

The proportion of deaths attributed to suicide was examined among 506 deceased individuals with diagnosed or suspected Huntington's Disease from New England USA. Comparison of this proportion with that of the general population indicated that the odds of a death being due to suicide in the Huntington's disease group is 8.2 times that of the Massachusetts population for persons aged 50 to 69 yr, but no difference appears in the 10 to 49 yr age group. Among the 157 Huntington's disease patients for whom cause of death was known, the corresponding odds estimates are 23.0 for the 50 to 69 yr age group and 2.7 for the 10 to 49 yr age group. More than half of the suicides occurred in individuals who showed early signs of the illness but who had not been diagnosed, suggesting that suicide may occur more frequently in the early stages of the illness.

Dissociations between skill learning and verbal recognition in amnesia and dementia.

Patients with Huntington's disease (HD), patients with alcoholic Korsakoff's syndrome, and normal control subjects were compared on tests of skill learning (mirror reading) and verbal recognition. Like previously reported results, the patients with Korsakoff's syndrome acquired the mirror-reading skill at a normal rate but were severely impaired in their recognition of the words used on the mirror-reading task. In contrast to the amnesic patients, the demented patients with HD were retarded in their ability to acquire this skill but showed normal verbal recognition. Besides emphasizing substantial differences in the anterograde substantial differences in the anterograde memory disorders of these two patient populations, the results suggest that the memory disorder of patients with HD may appear much more severe when recall rather than recognition test paradigms are employed. This failure of recall by the patients with HD may be due to an inability to generate strategies necessary to search their short- and long-term memories.

Retrograde amnesia in Parkinson's disease.

Retrograde amnesia was assessed in demented and non-demented Parkinson's patients using a test of remote memory spanning the years from 1920-1979. Results indicated that the demented patients 1) scored significantly below normal controls and 2) had equal impairment for all time periods. This pattern was like that seen in other dementing illnesses (i.e., Huntington's and Alzheimer's diseases), but different from that in amnesic disorders, such as Korsakoff's syndrome. The data, therefore, suggest qualitative differences in pattern of remote memory loss between the dementias and amnesic syndromes.

Neurologic evaluation of a population exposed to arsenic in Alaskan well water.

One hundred forty-seven persons exposed to arsenic from well water were evaluated by neurologic examination and nerve conduction studies. Total arsenic concentrations in well water ranged from 1 to 4781 micrograms/L and from 6 to 4964 micrograms/L in urine; a calculated index of arsenic ingestion ranged from 1 to 4521 micrograms/day. No dose-response relationship existed between arsenic ingestion and symptoms or physical findings compatible with peripheral neuropathy. Five of six persons with symptoms or physical findings suggestive of sensory neuropathy had normal nerve conduction velocities. Thirteen persons with elevated arsenic ingestion but no signs or symptoms of neuropathy had one or more abnormal nerve conduction velocities. No dose-response relationship, however, existed between arsenic ingestion and nerve conduction velocities. The authors concluded that arsenic ingestion from well water at the concentrations found in this Alaskan community did not result in clinical or subclinical neuropathy.

The effect of verbal mediators on the pictorial memory of brain-damaged patients.

Patients with alcoholic Korskoff's syndrome, Huntington's Disease, Alzheimer's Disease or right-hemisphere damage were administered a picture recognition task in which they attempted to associate specific human and animal figures with particular scenic backgrounds. Under one condition (no-story), no explicit verbal cues were provided to help the patients associate the figures with the scenes; in a second condition, stories, stories linking the figures to the background scenes were read to the patients during the study period. Although all four patient groups were impaired in picture-context recognition under the no-story condition, the groups differed significantly in their ability to use the stories to improve their pictorial memory. The Huntington and right-hemisphere patients' picture recognition showed significant improvement when stories were provided, whereas the Korsakoff and Alzheimer patients failed to use this verbal material in a productive manner. The groups also differed in their tendency to make intrusion (i.e., perseverative) errors on the picture-context recognition task. These group differences may be related to the combination of language, cognitive and motivational deficits associated with each disease.

Computed tomographic, neurologic, and neuropsychological correlates of Huntington's disease.

Twenty-six patients with Huntington's disease (HD) and three subjects at risk for HD were evaluated by computed tomographic, neurologic and neuropsychological examinations. These data were used to delineate the sequence of structural changes in early and intermediate HD, and the relationship of these changes to impairment of neurologic and cognitive function. CT scans documented an early neostriatal-frontal focus of atrophy in HD which spreads caudally over the cerebral cortex during the course of the disease. Chorea was positively correlated with caudate atrophy. Functional and cognitive (especially memory and visuospatial) impairments were strongly related to the degree of atrophy. Multiple regression analyses of CT and neuropsychological data further demonstrated that neostriatal changes make a significant contribution to the cognitive as well as to the motor impairments of HD patients.

Motor planning in Parkinson patients.

This study was designed to determine if Parkinsonian patients exhibited a deficit in motor planning. Thirty adult males, 15 with Parkinson's disease and 15 normal controls, were given a gestural test which had two components. The first component required the symbolic representation of implement usage on verbal command and on imitation (representational items) and the second component required the imitation of non-symbolic hand positions (non-representational items). The results indicated that Parkinsonian patients performed at a significantly lower gestural level on the representational tasks and made significantly more spatial errors on non-representational tasks than the normal controls.

Maternal transmission in Huntington's disease.

The effect of maternal transmission on age at onset of Huntington's disease (HD) was examined in 100 unrelated pedigrees. The age at which abnormal movement disorder first appeared could be estimated in 238 patients. More than twice as many of the late-onset cases (age 50 or later) inherited the HD gene from an affected mother than from an affected father. Affected offspring of late-onset females also had late-onset disease while those of late-onset males had significantly earlier ages of onset. This pattern of maternal inheritance suggests a model where the late-onset form of HD is related to a maternally transmitted factor such as the mitochondrion and its genome.

Neurourologic abnormalities in multiple sclerosis.

Multiple sclerosis is a demyelinating disease of the central nervous system, often producing abnormalities in sexual function and urinary control. Eighty-six patients with this disorder were referred to our neurourologic facilities for evaluation (45 women and 41 men). Symptomatic voiding dysfunction was present in 84 patients (97 per cent). Sexual dysfunction was present in 29 of the 41 men (71 per cent). Neurourologic evaluation was performed by rapid-fill carbon dioxide cystometry and perineal floor needle electromyography. Several neurourologic patterns were identified in multiple sclerosis patients: the most common cystometry pattern was detrusor hyperreflexia (76 per cent) and the most common electromyography finding was vesico-sphincter dyssynergia (50 per cent). Voiding symptoms alone were not found to correlate with neurourologic findings. The presence of bilateral extensor plantar reflexes was found to indicate the possibility of vesico-sphincter dyssynergia. The addition of sacral-evoked responses to the neurourologic evaluation was useful in the identification and localization of occult sacral cord pathology and was of special significance to men with sexual dysfunction undergoing evaluation for neurogenic impotence. The combination of abnormal perineal electromyography, abnormal sacral latency and detrusor hyperreflexia was suggestive of multilevel spinal cord dysfunction and, possibly, has diagnostic as well as therapeutic significance. Neurourologic patterns were found to change in 4 of 9 patients re-evaluated because of symptom changes or poor treatment responses. Neurourologic testing in multiple sclerosis patients may be used to identify pathologic lesions, characterize sexual and voiding dysfunctions, corroborate neurologic diagnosis in doubtful cases and form a basis for rational treatment planning.