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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
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Cerebellum & Ataxias

ISSN: 2053-8871

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