Basic Human Neuroanatomy
A Clinically Oriented Atlas 

Case History #170

Date of Consultation: 11-22-1983


This 44-year-old right-handed white female housewife was referred for neurologic evaluation of her unsteadiness and loss of balance.  The patient states that her symptoms began five years ago (1978), when she had the gradual onset of gait unsteadiness and loss of balance.  Over the past five years, these symptoms have progressively worsened.  Around the same time, she began to notice diplopia at a distance, which was horizontal in nature and occurred mainly when she was driving.  This has remained essentially stable, neither worsening nor improving. Approximately two years ago (1981), the patient noted slurring of her speech and difficulty swallowing, which was worse when she tried to swallow liquids as opposed to solids.  This problem also slowly worsened over the past two years.  Approximately one year ago (1982), she noticed the gradual onset of clumsiness of the hands and occasional urinary incontinence while asleep.


The patient has a strong family history of a similar syndrome.  The earliest relative with similar signs and symptoms was her maternal grandmother who came to the United States from Ireland.  This grandmother was afflicted with the same problem, as was one of her sisters.  The grandmother had nine children, five of whom were not afflicted with the problem and four of whom were.  One of the afflicted children was the patient’s mother, who began having difficulties with unsteadiness in her forties.  The patient’s mother had a sister who had nine children, none of whom came down with the problem.  She also had a brother who had two children, neither of whom have this problem.  The patient has a sister who also began having similar symptoms at about 47 years of age. 

Mental Status Exam:  No deficits of orientation, speech, or memory were present.  Her mood appeared to be depressed.

Cranial Nerves:  Sensation of smell was intact bilaterally.  Visual acuity was J2 O.U. without her glasses.  Visual field and funduscopic examinations were unremarkable.  External ocular movements were full without nystagmus or diplopia.  Pupils were equal, round, and reactive to light and accommodation.  Sensory and motor functions of the Vth cranial nerve were normal.  There was no facial weakness.  Hearing was intact bilaterally.  XIth cranial nerve functions were normal.  Examination of the palate revealed a weakness of the right palate with elevation of the uvula toward the left.  The tongue appeared slightly atrophic and fasciculations were present.  The patient’s speech was slow, slurred, and explosive in nature.  She spoke very slowly as if attempting to enunciate each syllable individually.

Motor System:  There was no evidence of focal or generalized muscular atrophy.  There were no fasciculations.  Muscle tone and power were normal in all four limbs.  There were no spontaneous involuntary movements seen.

Reflexes:  Deep tendon reflexes were equal and symmetric except for absent ankle jerks.  Plantar reflexes were extensor bilaterally. 

Sensory System:  All modalities of sensation, including cortical sensations, were normal, except for mildly decreased vibration in both lower limbs distally.  Joint position sense was less well perceived in the lower limbs than in the upper limbs, although it was performed accurately.

Cerebellar Function:  Cerebellar testing revealed an intention tremor in all four limbs with finger-to-nose and heel-to-shin testing.  There was dysmetria present in all four limbs.  Rapid alternating movements were performed dysrhythmically.  A mild degree of truncal ataxia was present when the patient sat with her eyes closed and her arms outstretched.
Gait and Stance:  Regular gait was performed on a widened base, and the patient was unable to walk unassisted.  She preferred to hold onto my arm on one side and have her cane on the other side.  No spasticity was present.  Tandem gait was impossible, and the Romberg test was not performed.


1.  Involvement of which pathways account for the patient’s findings on sensory examination?

2.  What accounts for this patient’s difficulty with speech?  What is the term that describes her speech pattern?

3.  Involvement of which structures account for the findings on cerebellar examination?

4.  What accounts for this patient’s gait disorder?
5.  This patient’s illness constitutes a classic neurologic syndrome.  What is the name of this syndrome?  

6.  In general, what type of pathologic process is involved in this case?
7.  What diagnostic procedure(s) would you undertake at this point?

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