Monozygotic twins concordant for late-onset probable Alzheimer disease with suspected Alzheimer disease in four sibs.

Probable Alzheimer disease (AD) is described in 79-year-old male twins with monozygosity confirmed by DNA examination. The first twin to be affected began to show signs of intellectual deterioration at age 70. In the other, onset was at age 72. Four of their living sibs (current age range = 75-92) are also suspected to have AD. The possible roles of genetic and environmental factors in the development of AD in this sibship are discussed.

Respiratory inhibitory apraxia.

Ten patients have been described showing inability to stop breathing on command, spontaneous respiration and voluntary respiratory stimulation being unaffected. This abnormality not previously described in the literature, we feel should be named respiratory inhibitory apraxia (R.I.A.). The anatomical organization of respiration is briefly reviewed. R.I.A. is often associated with other forms of apraxia or motor impersistence. It is thought that the urinary and bowel incontinence present in some of these cases might also represent a form of inhibitory apraxia. Information is presented which supports the view that respiratory inhibitory apraxia is due to a minor hemisphere lesion, usually deepseated. Our one autopsied case showed a lesion in the descending motor pathways in the internal capsule, in middle cerebral artery branch territory, disconnecting the voluntary respiratory inhibitory center in the cortex in anterior and middle cerebral cortical branch territories.

Relapsing polychondritis with multifocal neurological abnormalities.

A sixty-five year old woman developed relapsing polychondritis with three of the diagnostic criteria established by McAdam et al. (1976), namely bilateral auricular chondritis, ocular inflammation and both cochlear and vestibular dysfunction. Many authors have mentioned other neurological symptoms including unilateral facial weakness. This patient is the first case described with bilateral facial weakness and cerebral manifestations. Relapsing polychondritis, an uncommon, recurrent, inflammatory disorder affecting the cartilaginous tissues of the body (Jaksch-Wartenhorst, 1923; Herman, 1981), is regularly associated with audiovestibular dysfunction (Bollet et al., 1969; Cody et al., 1971; McAdam et al., 1976; Ridgway et al., 1979). McAdam et al. (1976) and Ridgway et al. (1979) have mentioned other neurological symptoms including unilateral facial weakness. We recently observed a patient with polychondritis and multifocal neurological abnormalities. We believe this is the first case described with bilateral facial nerve palsy and with cerebral manifestations.

Dominantly inherited hypertrophic neuropathy.

Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2 1/2 to 78 years. Age at onset in 14 of the 17 varied between 2 1/2 and 56 years. Pes cavus and palpable nerve thickening were present in more than half of the affected individuals. All patients had areflexia. Fifteen of the 17 had distal motor weakness as well as mild to moderate sensory impairment. Motor weakness affecting the proximal hip and shoulder girdle muscles was seen in 13 patients. Four patients gave a history of trigeminal neuralgia. Motor nerve conduction velocities were markedly impaired in all the clinically affected members. These studies were normal in the 8 unaffected members. Motor conduction velocities of the proximal segment of the ulnar nerve were slower compared to the distal segment in almost all the affected members. There was no significant correlation between the degree of clinical disability and the extent of impairment in the motor nerve conduction velocities. Sural nerve biopsies were studied. These observations are discussed.

Hereditary sensory neuropathy: a case with pain and temperature dissociation.

A case of hereditary sensory neuropathy is described resembling Dyck's Type I hereditary sensory neuropathy. Sensory testing revealed marked pain impairment in feet and hands shading at mid calf to normal at mid thigh and shading above the wrist to normal at the elbow. Other sensory modalities including temperature were intact except painful heat and painful cold and they produced very little if any discomfort. Stimuli at 0 degrees C or 45 degrees to 70 degrees C elicited a temperature response but not pain. Sural nerve biopsy findings (including electromicroscopy) were consistent with a diagnosis of Type I hereditary sensory neuropathy, but also showed evidence of abortive axonal regeneration and profound Schwann cell vacuolation.

Chronic subdural hematoma mimicking transient ischemic attacks.

A case is reported in which a chronic subdural hematoma caused recurrent episodes of neurologic dysfunction that simulated transient ischemic attacks. Possible pathophysiological mechanisms are: a subdural hematoma could cause local ischemia or focal epileptic discharges; a cerebral mass could cause cortical depression by mechanical stimulation; regional cerebral edema could cause vascular displacement and ischemia; or small repeated hemorrhages could cause transient neurologic deficits. Computer assisted tomography of the head is recommended in the differentiation of the two conditions.