Familial Parkinsonian pyramidal syndrome

Year : 2000 | Volume : 48 | Issue : 3 | Page : 297-8

Familial Parkinsonian pyramidal syndrome.

Rajendran P, Aleem MA, Chandrasekaran R, Raveendran S, Ramasubramanian D


Parkinsonian symptoms may be due to infections, secondary to impaired immunologic mechanisms, head trauma, stress, ageing, genetic mechanism, toxin exposure and other secondary causes like parathyroid abnormalities, hypothyrodism, brain tumour, Wilson's disease, normal pressure hydrocephalus, noncommunicating hydrocephalus, and syringo mesencephalia. Parkinson's disease occuring in the younger age group may be due to Huntington disease and juvenile paralysis agitans described by Ramsay Hunt in 1917. Familial incidence was reported by Golbe 1990. Two cases in the same family presented to us with parkinsonian pyramidal syndromes.
First case : Male aged 25 years, presented with history of progressive difficulty in walking, hypokinesia, slowness of speech and frequent falls. There was no history of exposure to toxin, infection, or drug intake. Examination revealed mask like face, infrequent blinking, tremors of hands, asymmetrical rigidity, with normal eye movements. There was no KF ring and fundus were normal. There was no cranial nerve palsies. There was evidence of bipyramidal signs with brisk reflexes and extensor plantars. Bladder and sensory system were normal. There were no abnormal movements or dystonia. Serum ceruloplasmin was normal. CT scan brain and MRI brain were normal.
Second patient : Female aged 15 years, sister of first case, presented with frequent falls, progressive difficulty in walking and hypokinesia for the past three years. There was no history of fever, jaundice, drug intake or exposure to toxin.
On examination she had all the features of Parkinson's disease. There was no KF ring. Patient had bilateral brisk reflexes and extensor plantars. Serum ceruloplasmin was normal. CT scan brain and MRI were also normal.
Familial PD is clinically indistinguishable from sporadic PD,[1] although a few pairs of monozygotic twins concordant for PD have been documented.[2]
Study in Finland found concordance for PD in 18 pairs of monozygotic siblings.[3] Common experience weighs against Mendelian inheritance as a common cause of idiopathic parkinsonism. However, cases of familial parkinsonism are regularly encountered,[4] leading to the suggestion that genetic factors may be responsible in some cases.[5] It has been noted in several surveys that about 15% of parkinsonian patients have an affected relative. However, a lifetime incidence rate of 2.5% would be sufficient to account for this number by chance alone. Duvoisin found equal prevalence of parkinsonism in the immediate family of patients as in the spouse's family.[6]
Another possible source of underestimation is a difference in age of onset. At the time of the study, not enough time may have elapsed for the symptoms to appear in the co-twin. In the few concordant twin pairs identified, age at onset differed by 6.5 to 10 years. Affected members of a kindred with apparent autosomal dominant parkinsonism ranged in age of onset from 22 to 61 years. The possibility that parkinsonism is caused by environmental factors acting on genetically susceptible individuals is attracting increasing attention.
Genetic factors may contribute to the pathogenesis of Parkinson's disease (PD) by several mechanisms, such as preventing normal development of dopaminergic neurons, delayed programming or accelerated cell death, interfering with normal protective mechanisms. Although heredity alone is probably not the major determinant of PD, genetic susceptibility may play an important role in some or most patients with PD.
These two siblings had features of PD with pyramidal signs. As both patients responded well to L Dopa therapy, and since by investigations and clinical history, no other cause for Parkinson's disease could be made out, these patients may come under the category of Parkinsonian Pyramidal Syndrome[7] occuring in families.


» References Top

1. Maraganore DM, Harding AE, Marsden CD : A clinical and genetic study of familial Parkinson's disease. Mov Disord 1991; 6 : 205-211. Back to cited text no. 1
2. Jankovic and Reaches A : Parkinson's disease in monozygotic twins. Ann Neurol1986; 19 : 405-408. Back to cited text no. 2
3. Martila RJ, Kaprio J, Kostenvuo MD et al : Parkinson's disease in a nation wide twin cohort. Neurology 1988; 38 : 1217-1219. Back to cited text no. 3
4. Golbe LI : The genetics of Parkinson's disease: a reconsideration. Neurology1990; 40 (suppl 3): 7-14. Back to cited text no. 4
5. Johnson WG : Genetic susceptibility to Parkinson's disease. Neurology1991; 41 (suppl 2) : 82-87. Back to cited text no. 5
6. Duvoisin RC : The cause of Parkinson's disease. In: Marsden CD and Fahns (eds), Movement Disorders. London: Butterworth Scientific 1982. Back to cited text no. 6
7. Joseph Jankovic MD : Current understanding of etiology and pathogenesis of Parkinson's Disease. American Academy of Neurology, Annual Courses 1995; 4 : 1271-1272. Back to cited text no. 7


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