TABLE 1.

List of pathogenic variants and related clinical findings.

	Patient ID	Age of onset (range)	Phenotype	Gene	Variant	Reported	Relevant specialist investigations	MRI performed	Final diagnosis
1	0fd42	36–40	CMT	GJB1	NM_000166.6:c.118G > T	Likely Pathogenic	ncs showed demyelination	no	CMTX1
2	7f225	26–30	CMT	GJB1	NM_000166.5:c.-103C > T	Pathogenic	ncs showed demyelination	no	CMTX1
3	5316c	6–10	CMT	GJB1	NM_000166.5:c.-103C > T	Pathogenic	ncs showed demyelination	no	CMTX1
4	59e19	41–45	CMT	GJB1	NM_000166.5:c.-103C > T	Pathogenic	ncs showed demyelination	no	CMTX1
5	67067	31–35	CMT	GJB1	NM_000166.5:c.-103C > T	Pathogenic	ncs showed demyelination	no	CMTX1
6	44c80	11–15	CMT	GJB1	NM_000166.5:c.-103C > T	Pathogenic	ncs of LL showed unelicited result	no	CMTX1
7	b17ef	36–40	CMT	GJB1	NM_000166.5:c.-103C > T	Pathogenic	ncs showed demyelination	MRI brain SVD	CMTX1
8	c8376	36–40	AD PD	PSEN1 LRRK2	NM_000021.4:c.781G > A NM_198578.3:c.4883G > C	Likely Pathogenic	amyloid PET scan positive	MRI brain SVD	EOAD
9	1da51	46–50	SPG	SPAST	NM_014946.3:c.1507C > T	Pathogenic	no	MRI brain thinning corpus callosum	SPG4
10	785f3	61–65	ALS	TARDBP	NM_007375.3:c.892G > A	Likely Pathogenic	EMG showed neurogenic changes	MRI spine normal	ALS10
11	9400f	6–10	SPG SCA	SACS	NM_014363.5:c.[7504C > T;8132C > T]	Pathogenic	ncs showed demyelination	MRI brain cerebellar atrophy	ARSACS
12	3d914	31–35	SCA	SYNE1	NM_182961.3:c.[20263C > T;8889delT]	Pathogenic	no	MRI brain cerebellar atrophy	SCAR8
13	e3d6c	46–50	SCA	TTBK2	NM_173500.3:c.1306 _1307delGA	Pathogenic	no	MRI brain cerebellar atrophy	SCA11
14	e7f6c	16–20	SCA	TTBK2	NM_173500.3:c.1329dupA	Pathogenic	no	MRI brain cerebellar atrophy	SCA11
15	4e074	UNKNOWN	SCA	PRKCG	NM_002739.4:c.301C > T	Pathogenic	CT brain showed cerebellar atrophy	no	SCA14
16	b1556	41–45	ALS	TARDBP	NM_007375.3:c.892G > A	Pathogenic	no	MRI spine normal	ALS10
17	f5ca3	41–45	SPG	PSEN1	NM_000021.3:c.811C > G	Pathogenic	no	no	AD type 3, with spastic paraparesis
18	76a50	36–40	SCA	LRRK2 POLG	NM_198578.3:c.4883G > C NM_001126131.1:c.2890C > T	Pathogenic	no	no	SCA
19	d59ec	61–65	MND	LRRK2 GDF6	NM_198578.3:c.4883G > C NM_001001557.3: c.1271A > G	Pathogenic	no	no	Parkinson disease 8, Klippel-Feil syndrome 1
20	73475	51–55	Leucoence phalopathy	LRRK2	NM_198578.3:c.7153G > A	Pathogenic	no	no	Parkinson disease 8
21	031b4	56–60	AD	LRRK2	NM_198578.3:c.4883G > C	Pathogenic	no	no	Parkinson disease 8
22	3e1e9	61–65	FTD Progressive Supranuclear Palsy	LRRK2	NM_198578.3:c.4883G > C	Pathogenic	no	no	Parkinson disease 8
23	108c9	UNKNOWN	UNKNOWN	LRRK2	NM_198578.3:c.4883G > C	Pathogenic	no	no	Parkinson disease 8
24	69f59	36–40	PD	LRRK2	NM_198578.3:c.4883G > C	Pathogenic	no	no	Parkinson disease 8
25	482d9	66–70	Mitochondrial disease	PQBP1	NM_001032383.1:c.461_462del	Pathogenic	no	no	Renpenning syndrome 1
26	ef2d1	61–65	SCA	TGM6	NM_198994.2:c.1550T > G	Pathogenic	no	MRI brain cerebellar atrophy	SCA35
27	7688b	66–70	AD	APOE	ApoE-ε4/ε4	Pathogenic	no	MRI brain mild atrophy	LOAD