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Table 1 Clinical characteristics of five patients with SCA31 complicated with NSDD

From: Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction

Patient

1

2

3

4

5

Sex

M

M

M

M

M

Age at onset

52

57

64

73

72

Age at NSDD onset

59

60

84

74

83

Age at MRI

63

61

85

77

83

Family history

+

+

+

–

+

L-DOPA response

+

+

+

NE

NE

Symptoms

 Cerebellar ataxia

+

+

+

+

+

 Rigidity

+

+

+

–

+

 Bradykinesia/akinesia

+

+

+

+

+

 Tremor

+

–

–

–

+

 Vertical gaze palsy

–

–

+

–

–

 Increased DTR

+

+

+

–

+

 Dysautonomia

–

–

–

–

–

Brain MRI findings

 Cerebellar atrophy

+

+

+

+

+

 MCP atrophy

–

–

–

–

–

 Putamen atrophy

–

–

–

–

–

 Hot cross bun sign

–

–

–

–

–

Neuromelanin MRI

 SN neuromelanin signal

↓

↓

↓

↓

NE

 LC neuromelanin signal

↓

↓

↓

→

NE

RI findings

 DAT scintigraphy

 SBR (Right/Left)

0.44/0.04

3.20/3.39

NE

3.08/2.71

NE

  1. Abbreviations: DAT 123I-ioflupane dopamine transporter, DTR Deep tendon reflex, LC Locus coeruleus, MCP Middle cerebellar peduncle, NE Not examined, NSDD Nigrostriatal dopaminergic dysfunction, SBR Specific binding ratio, SCA31 Spinocerebellar ataxia type 31, SN Substantia nigra