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Table 3 Summary of key case reports

From: Miglustat in Niemann-Pick disease type C patients: a review

Study / ref Design Pts / controls (N) Mean (range) pt agea Biomarkers and surrogate biomarkers Median (range) treatment durationb Reported treatment effects
Chien et al. (2007) [53] Case report on 2 pts. with 1-yr follow up EI, JUV pts.
(N = 2)
• VFS
• HSEM-α, visual pursuit
• Cog. function (MMSE)
1 yr • Improved/stabilised swallowing and ambulation
• Stable plasma ChT
Santos et al. (2008) [109] Single-pt. case report with 12-mo follow up JUV pt.
(N = 1)
• Disability scale
• Psychology and behaviour (CBCL)
1 yr • Stable disability scores
• Improved speech, movement and seizures
• Improved cog. Function
• Reduced depression/affective symptoms
Scheel et al. (2010) [87] Single-pt. case report with 12-mo follow up A/A pt. vs. age-matched controls
(N = 18)
29 yrs • DTI
• Saccadic eye movements
1 yr • Improved FA in the corpus callosum
Di Rocco et al. (2012) [124] Case report on 2 pts. with up to 7 yrs’ follow up EI pts.
(N = 2)
Pt 1: 7 mo
Pt 2: 19 mo
• Neurological examination
• Mental development scale
• MRI
Pt 1: 5 yrs
Pt 2: 7 yrs
• Neurological stabilisation
Chien et al. (2013) [52] Single-centre case series with up to 6-yr follow up EI, JUV pts.
(N = 5)
NR (4–8) yrs • VFS
• Cog. function (MMSE)
• SAI
4 (4–6) yrs • Swallowing function stabilised
• Improved/stabilised cognitive function
• 2-year stabilisation of ambulation
Mattsson et al. (2013) [110] Single-pt. case report A/A pt.
(N = 1)
44 yrs • Neurological examination
• Ocular motor examination
• MRI, SPECT, EEG
NR • Improved speech (from mutism to complete, coherent sentences)
Szakszon et al. (2014) [102] Single-pt. case report with 3-yr follow up JUV pt.
(N = 1)
10 yrs • Neurological examination
• Psychiatric consultation
• MRI
3 yrs • Complete recovery from psychosis
Maubert et al. (2015) [107] Case report in sibling pair A/A pt.
(N = 1)
Pt. 1: 22 yrs
Pt. 2: 21 yrs
• Neurological examination
• Cog. function (MMSE)
Pt 1: 1.7 yr
Pt2: NA
• Stable psych. Symptoms and cog. Function
• Cessation of anti-psychotic therapy
• Greater independence
Cuisset et al. (2016) [99] Single-pt. case report in atypical NP-C JUV pt.
(N = 1)
10 yrs • Swallowing (VFS)
• SAI
3 yrs • Global improvement
• Improved cog. and ambulatory function
• Abolition of seizure activity
Abe and Sakai (2017) [97] Single-pt. case report with 20-yr follow up JUV pt.
(N = 1)
20 yrs • Neurological examination
• Swallowing (clinical)
• MRI
4 yrs • Improved swallowing capacity
• Improved and muscle tone
Benussi et al. (2017) [59] Prospective, single-centre case-control study A/A pts. vs. healthy controls
(N = 22)
35 (25–57) yrs • TMS
• Cog. function (MMSE, other)
1.0 (NA) yr • Improved LTP-like cortical plasticity
• Improved short-latency afferent inhibition
• Improved/stabilised movement
Hassan et al. (2017) [93] Single-pt. case report in a pt. with cerebellar ataxia A/A pt.
(N = 1)
• TMS
• Cog. function
1.3 yrs • Reduced short-latency afferent inhibition (sensorimotor integration)
  1. aAge at disease onset or diagnosis; bsingle-patient follow up for case reports; A/A adolescent/adult-onset, CBCL Child behaviour checklist, ChT chitotriosidase, DTI diffusion tension imaging, EEG electroencephalography, EI early-infantile, FA fractional anisotropy, HSEM horizontal saccadic eye movements, JUV juvenile, LI late infantile, MMSE mini-mental state examination, MRI magnetic resonance imaging, NR not reported, SAI, standard ambulation index, TMS transcranial magnetic stimulation, VFS video-fluoroscopic analysis