Genotype Clinical Phenotype Correlation

The cases from the Hardie series with known genetic mutations were reanalyzed according to their molecular diagnosis. The details of the individuals' clinical and pathological features are outlined in Table 1.

Table 1 Clinical, haematological and pathological features in cases with known mutations

Movement

Orofacial

Psychiatric Cognitive

Pathology regions

Case

AOO

Sex

disorder

dyskinesia Dysarthria Biting features features Seizures Neuropathy

Acanthocytes câ

) of neuronal loss

ChAc family 1 [269T^A (exon 4) + 6404-6405insT (exon 48)]

1

37

M

P

-

+

- + + + +

0

Ca, Pu, GP.SN

2

39

F

CP

+

+

- + + - +

0

3

40

F

CPDT

-

+

- - + - +

10

4

44

F

CPT

-

+

- + + - +

10

ChAc family 9 [8162A^G (exon 27)]

11

12

F

PDT

+

+

+ + + - +

30

12

8

M

D

-

+

- + + - -

10

McLeod family [1-bp deletion codon 90 (exon 2)]

5

51

F

CT

+

+

- + + + +

30

Ca, Pu, GP

6

-

F

C

-

-

- - -

10

7

24

M

C

-

-

- + - + +

NK

8

22

M

-

-

-

- - - + +

NK

9

27

M

-

-

-

_ +

20

10

-

F

-

-

-

- - -

5

Case refers to case number in Hardie et al. [6] AOO age of onset, M male, F female C chorea, P parkinsonism, D dystonia, T tremor + = present, - absent, NK not known

Neuropathy:+ = hypo/areflexia or electrophysiological evidence of neuropathy Pathology: Ca caudate, Pu putamen, GP globus pallidus, SN substantia nigra

0 0

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