Table 1.

Clinical characteristics of the affected family members

Relation to patient [as per the pedigree chart Figure 2]	Sex	Age at onset of symptoms (years)	Clinical features	Investigations (MRI brain/EEG/genetic study)	Time death from onset of symptoms (months)
II-1	Female	65 years	Forgetfulness followed by ataxia and myoclonus	No investigation done	14 months
II-2	Male	60 years	Forgetfulness followed by akinetic mutism and Myoclonus	No investigation done	12 months
II-4	Female	55 years	Forgetfulness and ataxia followed by myoclonus	No investigation done	11 months
III-1	Female	53 years	Forgetfulness, ataxia, slurring of speech followed by akinetic mutism and myoclonus	MRI brain: Not done	3 months
				EEG: Not done
				Genetic study: Not done
III-2	Female	48 years	Forgetfulness, insomnia, behavioral changes, ataxia, myoclonus, and akinetic mutism in terminal stages	MRI: Done	11 months
				EEG: Not done
				Genetic study: Not done
III-5	Male	45 years	Forgetfulness, behavioral changes, extrapyramidal symptoms followed by myoclonus	MRI: Not done	14 months
				EEG: Not done
				Genetic study: Not done
IV-2 (index case)	Male	42 years	Described in detail in the text	MRI: Suggestive of CJD	13 months
				EEG: Done
				Genetic study: Positive for D178N mutation
IV-4	Male	Now aged 32 years	Asymptomatic	MRI/EEG: Not done	-
				Genetic study: Positive for D178N mutation. Currently asymptomatic
V-3	Male	Now aged 17 years	Asymptomatic	MRI/EEG: Not done	-
				Genetic study: Positive for D178N mutation. Currently asymptomatic

MRI=Magnetic resonance imaging, EEG=Electroencephalogram, CJD=Creutzfeldt-Jakob disease